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What are the treatments for Steatocystoma multiplex ?
How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts. In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening. Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics to reduce redness and swelling. Other procedures may include draining cysts through a procedure called aspiration, liquid nitrogen cryotherapy, dermabrasion, and carbon dioxide laser therapy. In a recently published case study, the authors present a case in which an individual with steatocystomas on the abdomen and lower chest showed substantial clearance of cysts after two laser treatment sessions. Future studies with a larger patient population will be helpful to evaluate this noninvasive treatment option and determine ideal treatment settings, number of treatments, and interval between treatments. This may prove to be an option for individuals with numerous cysts, in whom removal and drainage is not a realistic choice and other treatments have failed to improve the condition.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Steatocystoma multiplex ? [/INST] \n How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts. In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening. Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics to reduce redness and swelling. Other procedures may include draining cysts through a procedure called aspiration, liquid nitrogen cryotherapy, dermabrasion, and carbon dioxide laser therapy. In a recently published case study, the authors present a case in which an individual with steatocystomas on the abdomen and lower chest showed substantial clearance of cysts after two laser treatment sessions. Future studies with a larger patient population will be helpful to evaluate this noninvasive treatment option and determine ideal treatment settings, number of treatments, and interval between treatments. This may prove to be an option for individuals with numerous cysts, in whom removal and drainage is not a realistic choice and other treatments have failed to improve the condition.[/s]
What is (are) Tetrahydrobiopterin deficiency ?
Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Tetrahydrobiopterin deficiency ? [/INST] \n Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement.[/s]
What are the symptoms of Tetrahydrobiopterin deficiency ?
What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Other manifestations may include decreased spontaneous movements and difficulty swallowing. Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Abnormality of eye movement - Ataxia - Autosomal recessive inheritance - Bradykinesia - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Hyperreflexia - Hypertonia - Infantile onset - Intellectual disability - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Motor delay - Muscular hypotonia - Muscular hypotonia of the trunk - Myoclonus - Parkinsonism - Poor suck - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Small for gestational age - Somnolence - Transient hyperphenylalaninemia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Tetrahydrobiopterin deficiency ? [/INST] \n What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Other manifestations may include decreased spontaneous movements and difficulty swallowing. Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Abnormality of eye movement - Ataxia - Autosomal recessive inheritance - Bradykinesia - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Hyperreflexia - Hypertonia - Infantile onset - Intellectual disability - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Motor delay - Muscular hypotonia - Muscular hypotonia of the trunk - Myoclonus - Parkinsonism - Poor suck - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Small for gestational age - Somnolence - Transient hyperphenylalaninemia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Meckel syndrome type 2 ?
What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 5% Microphthalmia 5% Anencephaly - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Cleft palate - Encephalocele - Intrauterine growth retardation - Meningocele - Polydactyly - Postaxial hand polydactyly - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Meckel syndrome type 2 ? [/INST] \n What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 5% Microphthalmia 5% Anencephaly - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Cleft palate - Encephalocele - Intrauterine growth retardation - Meningocele - Polydactyly - Postaxial hand polydactyly - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Adenocarcinoma of the appendix ?
Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common is the carcinoid type (66% of the total), with cyst-adenocarcinoma accounting for 20% and adenocarcinoma accounting for 10%. Then there are the rare forms of cancers which include adenocarcinoid, signet ring, non-Hodgkins lymphoma, ganglioneuroma, and pheochromocytoma. Benign primary tumors are mainly mucinous epithelial neoplasms, also called adenomas, cystadenoma, and benign neoplastic mucocele. Adenocarcinoma of the appendix is a epithelial cancer of the appendix. The term 'epithelium' refers to cells that line hollow organs and glands and those that make up the outer surface of the body. Epithelial cells help to protect or enclose organs. Some produce mucus or other secretions. Types of adenocarcinoma of the appendix include mucinous adenocarcinoma, non-mucinous adenocarcinoma, and signet cell carcinoma of appendix (which is the rarer involving only 4% of all the subtypes of appendix cancer).
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Adenocarcinoma of the appendix ? [/INST] \n Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common is the carcinoid type (66% of the total), with cyst-adenocarcinoma accounting for 20% and adenocarcinoma accounting for 10%. Then there are the rare forms of cancers which include adenocarcinoid, signet ring, non-Hodgkins lymphoma, ganglioneuroma, and pheochromocytoma. Benign primary tumors are mainly mucinous epithelial neoplasms, also called adenomas, cystadenoma, and benign neoplastic mucocele. Adenocarcinoma of the appendix is a epithelial cancer of the appendix. The term 'epithelium' refers to cells that line hollow organs and glands and those that make up the outer surface of the body. Epithelial cells help to protect or enclose organs. Some produce mucus or other secretions. Types of adenocarcinoma of the appendix include mucinous adenocarcinoma, non-mucinous adenocarcinoma, and signet cell carcinoma of appendix (which is the rarer involving only 4% of all the subtypes of appendix cancer).[/s]
What are the symptoms of Adenocarcinoma of the appendix ?
What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Adenocarcinoma of the appendix ? [/INST] \n What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness.[/s]
How to diagnose Adenocarcinoma of the appendix ?
How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Adenocarcinoma of the appendix ? [/INST] \n How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.[/s]
What is (are) Hepatocellular carcinoma, childhood ?
Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Hepatocellular carcinoma, childhood ? [/INST] \n Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.[/s]
What are the symptoms of Hepatocellular carcinoma, childhood ?
What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Hepatocellular carcinoma, childhood ? [/INST] \n What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What causes Hepatocellular carcinoma, childhood ?
What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What causes Hepatocellular carcinoma, childhood ? [/INST] \n What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.[/s]
What is (are) Macrodactyly of the hand ?
Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly, a condition in which two fingers are fused together. Although it is a benign condition, macrodactyly is deforming and can look cosmetically displeasing. Surgery, usually involving multiple procedures, can help the problem.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Macrodactyly of the hand ? [/INST] \n Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly, a condition in which two fingers are fused together. Although it is a benign condition, macrodactyly is deforming and can look cosmetically displeasing. Surgery, usually involving multiple procedures, can help the problem.[/s]
What is (are) Trichotillomania ?
Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. The condition may be mild and manageable, or severe and debilitating. Some individuals chew or swallow the hair they pull out (trichophagy), which can result in gastrointestinal problems. The exact cause of the condition is unknown. Treatment typically involves psychotherapy (including cognitive behavior therapy) and/or drug therapy, but these are not always effective.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Trichotillomania ? [/INST] \n Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. The condition may be mild and manageable, or severe and debilitating. Some individuals chew or swallow the hair they pull out (trichophagy), which can result in gastrointestinal problems. The exact cause of the condition is unknown. Treatment typically involves psychotherapy (including cognitive behavior therapy) and/or drug therapy, but these are not always effective.[/s]
What are the symptoms of Trichotillomania ?
What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia - Autosomal dominant inheritance - Hair-pulling - Multifactorial inheritance - Obsessive-compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Trichotillomania ? [/INST] \n What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia - Autosomal dominant inheritance - Hair-pulling - Multifactorial inheritance - Obsessive-compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the treatments for Trichotillomania ?
How might trichotillomania be treated? Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. Shaving or clipping hair close to the scalp may be helpful to stop the behavior. Professional cognitive behavior therapy (CBT) is recommended if initial approaches are unsuccessful. CBT typically involves self monitoring (keeping records of the behavior); habit-reversal training; and stimulus control (organizing the environment). CBT is typically effective in highly motivated and compliant patients. The success of therapy may depend on firm understanding of the illness and the cooperation of the family members to help the affected individual comply with treatment. Several courses of CBT may be needed. No medication has been approved for the treatment of trichotillomania, and medications used have not been consistently effective. Selective serotonin reuptake inhibitors have been utilized but responses to treatment have not been consistent. Fortunately, several recent studies regarding drug therapy for trichotillomania show promise. While drug therapy alone is currently generally not effective, combination therapy and other treatments may be helpful. More detailed information about current treatment options for trichotillomania is available on Medscape Reference's Web site and can be viewed by clicking here. You may need to register on the Web site, but registration is free.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Trichotillomania ? [/INST] \n How might trichotillomania be treated? Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. Shaving or clipping hair close to the scalp may be helpful to stop the behavior. Professional cognitive behavior therapy (CBT) is recommended if initial approaches are unsuccessful. CBT typically involves self monitoring (keeping records of the behavior); habit-reversal training; and stimulus control (organizing the environment). CBT is typically effective in highly motivated and compliant patients. The success of therapy may depend on firm understanding of the illness and the cooperation of the family members to help the affected individual comply with treatment. Several courses of CBT may be needed. No medication has been approved for the treatment of trichotillomania, and medications used have not been consistently effective. Selective serotonin reuptake inhibitors have been utilized but responses to treatment have not been consistent. Fortunately, several recent studies regarding drug therapy for trichotillomania show promise. While drug therapy alone is currently generally not effective, combination therapy and other treatments may be helpful. More detailed information about current treatment options for trichotillomania is available on Medscape Reference's Web site and can be viewed by clicking here. You may need to register on the Web site, but registration is free.[/s]
What is (are) 11-beta-hydroxylase deficiency ?
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) 11-beta-hydroxylase deficiency ? [/INST] \n Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.[/s]
What are the symptoms of 11-beta-hydroxylase deficiency ?
What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Accelerated skeletal maturation - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Hyperpigmentation of the skin - Hypertension - Hypokalemia - Hypoplasia of the uterus - Hypoplasia of the vagina - Long penis - Neonatal onset - Precocious puberty in males - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of 11-beta-hydroxylase deficiency ? [/INST] \n What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Accelerated skeletal maturation - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Hyperpigmentation of the skin - Hypertension - Hypokalemia - Hypoplasia of the uterus - Hypoplasia of the vagina - Long penis - Neonatal onset - Precocious puberty in males - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
Is 11-beta-hydroxylase deficiency inherited ?
How is 11-beta-hydroxylase deficiency inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: Is 11-beta-hydroxylase deficiency inherited ? [/INST] \n How is 11-beta-hydroxylase deficiency inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[/s]
How to diagnose 11-beta-hydroxylase deficiency ?
Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose 11-beta-hydroxylase deficiency ? [/INST] \n Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.[/s]
What are the symptoms of Spinocerebellar ataxia 4 ?
What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Distal sensory impairment - Dysarthria - Hyporeflexia - Impaired smooth pursuit - Limb dysmetria - Progressive cerebellar ataxia - Sensory neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Spinocerebellar ataxia 4 ? [/INST] \n What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Distal sensory impairment - Dysarthria - Hyporeflexia - Impaired smooth pursuit - Limb dysmetria - Progressive cerebellar ataxia - Sensory neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Primary spontaneous pneumothorax ?
Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Primary spontaneous pneumothorax ? [/INST] \n Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome.[/s]
What are the symptoms of Primary spontaneous pneumothorax ?
What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pleura 90% Autosomal dominant inheritance - Incomplete penetrance - Spontaneous pneumothorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Primary spontaneous pneumothorax ? [/INST] \n What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pleura 90% Autosomal dominant inheritance - Incomplete penetrance - Spontaneous pneumothorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Aganglionosis, total intestinal ?
What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Total intestinal aganglionosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Aganglionosis, total intestinal ? [/INST] \n What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Total intestinal aganglionosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Gupta Patton syndrome ?
What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anotia - Aplasia/Hypoplasia of the middle ear - Autosomal recessive inheritance - Conductive hearing impairment - Facial asymmetry - Microtia - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Gupta Patton syndrome ? [/INST] \n What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anotia - Aplasia/Hypoplasia of the middle ear - Autosomal recessive inheritance - Conductive hearing impairment - Facial asymmetry - Microtia - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Hypomagnesemia 2, renal ?
What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypomagnesemia - Renal magnesium wasting - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Hypomagnesemia 2, renal ? [/INST] \n What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypomagnesemia - Renal magnesium wasting - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Spondylocostal dysostosis 1 ?
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 1 is caused by mutations in the DLL3 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Spondylocostal dysostosis 1 ? [/INST] \n Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 1 is caused by mutations in the DLL3 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.[/s]
What are the symptoms of Spondylocostal dysostosis 1 ?
What are the signs and symptoms of Spondylocostal dysostosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Death in infancy - Disproportionate short-trunk short stature - Hemivertebrae - Recurrent respiratory infections - Rib fusion - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Spondylocostal dysostosis 1 ? [/INST] \n What are the signs and symptoms of Spondylocostal dysostosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Death in infancy - Disproportionate short-trunk short stature - Hemivertebrae - Recurrent respiratory infections - Rib fusion - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Takayasu arteritis ?
Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Takayasu arteritis ? [/INST] \n Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.[/s]
What are the symptoms of Takayasu arteritis ?
What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Aneurysm 90% Hyperhidrosis 90% Hypertensive crisis 90% Vasculitis 90% Weight loss 90% Abnormal pattern of respiration 50% Abnormality of the aortic valve 50% Anemia 50% Anorexia 50% Arthritis 50% Chest pain 50% Coronary artery disease 50% Dilatation of the ascending aorta 50% Gangrene 50% Hypertrophic cardiomyopathy 50% Inflammatory abnormality of the eye 50% Migraine 50% Muscle weakness 50% Myalgia 50% Pulmonary hypertension 50% Seizures 50% Skin ulcer 50% Visual impairment 50% Abnormality of the endocardium 7.5% Amaurosis fugax 7.5% Arthralgia 7.5% Cerebral ischemia 7.5% Gastrointestinal infarctions 7.5% Hemoptysis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Retinopathy 7.5% Arteritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Takayasu arteritis ? [/INST] \n What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Aneurysm 90% Hyperhidrosis 90% Hypertensive crisis 90% Vasculitis 90% Weight loss 90% Abnormal pattern of respiration 50% Abnormality of the aortic valve 50% Anemia 50% Anorexia 50% Arthritis 50% Chest pain 50% Coronary artery disease 50% Dilatation of the ascending aorta 50% Gangrene 50% Hypertrophic cardiomyopathy 50% Inflammatory abnormality of the eye 50% Migraine 50% Muscle weakness 50% Myalgia 50% Pulmonary hypertension 50% Seizures 50% Skin ulcer 50% Visual impairment 50% Abnormality of the endocardium 7.5% Amaurosis fugax 7.5% Arthralgia 7.5% Cerebral ischemia 7.5% Gastrointestinal infarctions 7.5% Hemoptysis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Retinopathy 7.5% Arteritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the treatments for Takayasu arteritis ?
How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Takayasu arteritis ? [/INST] \n How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.[/s]
What are the symptoms of Cataract anterior polar dominant ?
What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Cataract anterior polar dominant ? [/INST] \n What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Hereditary elliptocytosis ?
Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Hereditary elliptocytosis ? [/INST] \n Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.[/s]
What is (are) Chromosome 14q deletion ?
Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Chromosome 14q deletion ? [/INST] \n Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.[/s]
What are the symptoms of Familial hyperaldosteronism type III ?
What are the signs and symptoms of Familial hyperaldosteronism type III ? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperaldosteronism type III . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypercalciuria 5% Metabolic acidosis 5% Polydipsia 5% Polyuria 5% Adrenal hyperplasia - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Hypokalemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Familial hyperaldosteronism type III ? [/INST] \n What are the signs and symptoms of Familial hyperaldosteronism type III ? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperaldosteronism type III . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypercalciuria 5% Metabolic acidosis 5% Polydipsia 5% Polyuria 5% Adrenal hyperplasia - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Hypokalemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Florid cemento-osseous dysplasia ?
Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the jaw and are symmetrical. The number, size, and shape of the lesions vary. Occasionally the lesions expand and may cause discomfort, pain, or mild disfigurement. The radiographic appearance of the lesions are important for diagnosis.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Florid cemento-osseous dysplasia ? [/INST] \n Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the jaw and are symmetrical. The number, size, and shape of the lesions vary. Occasionally the lesions expand and may cause discomfort, pain, or mild disfigurement. The radiographic appearance of the lesions are important for diagnosis.[/s]
What are the symptoms of Florid cemento-osseous dysplasia ?
What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Florid cemento-osseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cementoma - Misalignment of teeth - Multiple impacted teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Florid cemento-osseous dysplasia ? [/INST] \n What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Florid cemento-osseous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cementoma - Misalignment of teeth - Multiple impacted teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What causes Florid cemento-osseous dysplasia ?
What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and the rate of lesion growth was rapid.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What causes Florid cemento-osseous dysplasia ? [/INST] \n What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and the rate of lesion growth was rapid.[/s]
How to diagnose Florid cemento-osseous dysplasia ?
How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, namely Paget's disease, chronic diffuse sclerosing osteomyelitis, fibrous dysplasia, osteosarcoma, periapical cemental dysplasia.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Florid cemento-osseous dysplasia ? [/INST] \n How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, namely Paget's disease, chronic diffuse sclerosing osteomyelitis, fibrous dysplasia, osteosarcoma, periapical cemental dysplasia.[/s]
What are the treatments for Florid cemento-osseous dysplasia ?
How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the treatment of florid cemento-osseous dysplasia in one patient. We recommend that you speak with your dentist to learn more about your treatment options and for referrals to local specialists. Minhas G, Hodge T, Gill DS. Orthodontic treatment and cemento-osseous dysplasia: a case report. J Orthod. 2008 Jun;35(2):90-5. You can also use the following tools to help you find specialists in your area. The Academy of General Dentistry has a tool for finding member dentists in your area. http://www.knowyourteeth.com/findadentist/ The American Association of Oral and Maxillofacial Surgeons offers the following tool for finding member oral and maxillofacial surgeons in your area. http://www.aaoms.org/findoms.php Sometimes with more rare diseases, it can be helpful to have an evaluation with a specialist at a major university hospital or academic medical center. Such facilities often have access to up-to-date testing and technology, a large group of health care providers and specialists to consult with, and research opportunities.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Florid cemento-osseous dysplasia ? [/INST] \n How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the treatment of florid cemento-osseous dysplasia in one patient. We recommend that you speak with your dentist to learn more about your treatment options and for referrals to local specialists. Minhas G, Hodge T, Gill DS. Orthodontic treatment and cemento-osseous dysplasia: a case report. J Orthod. 2008 Jun;35(2):90-5. You can also use the following tools to help you find specialists in your area. The Academy of General Dentistry has a tool for finding member dentists in your area. http://www.knowyourteeth.com/findadentist/ The American Association of Oral and Maxillofacial Surgeons offers the following tool for finding member oral and maxillofacial surgeons in your area. http://www.aaoms.org/findoms.php Sometimes with more rare diseases, it can be helpful to have an evaluation with a specialist at a major university hospital or academic medical center. Such facilities often have access to up-to-date testing and technology, a large group of health care providers and specialists to consult with, and research opportunities.[/s]
What is (are) Apert syndrome ?
Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Apert syndrome ? [/INST] \n Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual's needs.[/s]
What are the symptoms of Apert syndrome ?
What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes (syndactyly). The severity of the fusion varies. Less commonly, people with this condition have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome may include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate). The Human Phenotype Ontology provides the following list of signs and symptoms for Apert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Malar flattening 90% Proptosis 90% Toe syndactyly 90% Abnormality of the fontanelles or cranial sutures 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Convex nasal ridge 50% Delayed eruption of teeth 50% Facial asymmetry 50% Hypertelorism 50% Hypertension 50% Mandibular prognathia 50% Strabismus 50% Vertebral segmentation defect 50% Arnold-Chiari malformation 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cloverleaf skull 7.5% Corneal erosion 7.5% Ectopic anus 7.5% Hydrocephalus 7.5% Limb undergrowth 7.5% Optic atrophy 7.5% Ovarian neoplasm 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Postaxial hand polydactyly 5% Preaxial hand polydactyly 5% Absent septum pellucidum - Acne - Acrobrachycephaly - Agenesis of corpus callosum - Anomalous tracheal cartilage - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Bifid uvula - Brachyturricephaly - Broad distal hallux - Broad distal phalanx of the thumb - Broad forehead - Cervical vertebrae fusion (C5/C6) - Choanal stenosis - Chronic otitis media - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed cranial suture closure - Dental malocclusion - Esophageal atresia - Flat face - Growth abnormality - Hearing impairment - High forehead - Humeroradial synostosis - Hydronephrosis - Hypoplasia of midface - Intellectual disability - Large fontanelles - Limbic malformations - Megalencephaly - Narrow palate - Overriding aorta - Posterior fossa cyst - Pyloric stenosis - Shallow orbits - Synostosis of carpal bones - Vaginal atresia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Apert syndrome ? [/INST] \n What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes (syndactyly). The severity of the fusion varies. Less commonly, people with this condition have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome may include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate). The Human Phenotype Ontology provides the following list of signs and symptoms for Apert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Malar flattening 90% Proptosis 90% Toe syndactyly 90% Abnormality of the fontanelles or cranial sutures 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Convex nasal ridge 50% Delayed eruption of teeth 50% Facial asymmetry 50% Hypertelorism 50% Hypertension 50% Mandibular prognathia 50% Strabismus 50% Vertebral segmentation defect 50% Arnold-Chiari malformation 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cloverleaf skull 7.5% Corneal erosion 7.5% Ectopic anus 7.5% Hydrocephalus 7.5% Limb undergrowth 7.5% Optic atrophy 7.5% Ovarian neoplasm 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Postaxial hand polydactyly 5% Preaxial hand polydactyly 5% Absent septum pellucidum - Acne - Acrobrachycephaly - Agenesis of corpus callosum - Anomalous tracheal cartilage - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Bifid uvula - Brachyturricephaly - Broad distal hallux - Broad distal phalanx of the thumb - Broad forehead - Cervical vertebrae fusion (C5/C6) - Choanal stenosis - Chronic otitis media - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed cranial suture closure - Dental malocclusion - Esophageal atresia - Flat face - Growth abnormality - Hearing impairment - High forehead - Humeroradial synostosis - Hydronephrosis - Hypoplasia of midface - Intellectual disability - Large fontanelles - Limbic malformations - Megalencephaly - Narrow palate - Overriding aorta - Posterior fossa cyst - Pyloric stenosis - Shallow orbits - Synostosis of carpal bones - Vaginal atresia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
How to diagnose Apert syndrome ?
How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings: Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination; Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets; Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly. While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Apert syndrome ? [/INST] \n How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings: Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination; Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets; Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly. While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.[/s]
What are the symptoms of Coxa vara, congenital ?
What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Coxa vara - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Coxa vara, congenital ? [/INST] \n What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Coxa vara - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Buschke Lowenstein tumor ?
Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begins with removal by surgery. Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Buschke Lowenstein tumor ? [/INST] \n Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begins with removal by surgery. Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type.[/s]
What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ?
What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Genu varum 90% Hyperlordosis 90% Micromelia 90% Platyspondyly 90% Short neck 90% Short thorax 90% Thin vermilion border 90% Depressed nasal bridge 50% Gait disturbance 50% Hepatomegaly 50% Joint hypermobility 50% Round face 50% Splenomegaly 50% Wormian bones 7.5% Abdominal distention - Abnormality of the abdominal wall - Autosomal recessive inheritance - Bell-shaped thorax - Central vertebral hypoplasia - Coxa vara - Delayed epiphyseal ossification - Disproportionate short stature - Fibular overgrowth - Flared metaphysis - Joint laxity - Lumbar hyperlordosis - Metaphyseal irregularity - Narrow greater sacrosciatic notches - Narrow vertebral interpedicular distance - Short femoral neck - Short ribs - Spondyloepimetaphyseal dysplasia - Vertebral hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ? [/INST] \n What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Genu varum 90% Hyperlordosis 90% Micromelia 90% Platyspondyly 90% Short neck 90% Short thorax 90% Thin vermilion border 90% Depressed nasal bridge 50% Gait disturbance 50% Hepatomegaly 50% Joint hypermobility 50% Round face 50% Splenomegaly 50% Wormian bones 7.5% Abdominal distention - Abnormality of the abdominal wall - Autosomal recessive inheritance - Bell-shaped thorax - Central vertebral hypoplasia - Coxa vara - Delayed epiphyseal ossification - Disproportionate short stature - Fibular overgrowth - Flared metaphysis - Joint laxity - Lumbar hyperlordosis - Metaphyseal irregularity - Narrow greater sacrosciatic notches - Narrow vertebral interpedicular distance - Short femoral neck - Short ribs - Spondyloepimetaphyseal dysplasia - Vertebral hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Noonan syndrome 4 ?
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Noonan syndrome 4 ? [/INST] \n Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.[/s]
What are the symptoms of Noonan syndrome 4 ?
What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Noonan syndrome 4 ? [/INST] \n What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the treatments for Noonan syndrome 4 ?
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Noonan syndrome 4 ? [/INST] \n How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.[/s]
What are the symptoms of PAGOD syndrome ?
What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Aplasia/Hypoplasia of the lungs 90% Abnormality of female internal genitalia 50% Abnormality of the testis 50% Congenital diaphragmatic hernia 50% Female pseudohermaphroditism 50% Hypoplastic left heart 50% Multicystic kidney dysplasia 50% Omphalocele 50% Renal hypoplasia/aplasia 50% Abnormality of neuronal migration 7.5% Abnormality of the aorta 7.5% Abnormality of the clavicle 7.5% Abnormality of the ribs 7.5% Abnormality of the spleen 7.5% Asymmetric growth 7.5% Encephalocele 7.5% Meningocele 7.5% Microcephaly 7.5% Optic atrophy 7.5% Short stature 7.5% Situs inversus totalis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of PAGOD syndrome ? [/INST] \n What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Aplasia/Hypoplasia of the lungs 90% Abnormality of female internal genitalia 50% Abnormality of the testis 50% Congenital diaphragmatic hernia 50% Female pseudohermaphroditism 50% Hypoplastic left heart 50% Multicystic kidney dysplasia 50% Omphalocele 50% Renal hypoplasia/aplasia 50% Abnormality of neuronal migration 7.5% Abnormality of the aorta 7.5% Abnormality of the clavicle 7.5% Abnormality of the ribs 7.5% Abnormality of the spleen 7.5% Asymmetric growth 7.5% Encephalocele 7.5% Meningocele 7.5% Microcephaly 7.5% Optic atrophy 7.5% Short stature 7.5% Situs inversus totalis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ?
What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver - Absence of lymph node germinal center - Autosomal recessive inheritance - Endocardial fibrosis - IgG deficiency - Immunodeficiency - Microcephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ? [/INST] \n What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver - Absence of lymph node germinal center - Autosomal recessive inheritance - Endocardial fibrosis - IgG deficiency - Immunodeficiency - Microcephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Pheochromocytoma, childhood ?
What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Pheochromocytoma, childhood ? [/INST] \n What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ? [/INST] \n What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ?
What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorimotor neuropathy 5% Spastic paraparesis 5% Autosomal recessive inheritance - Bradykinesia - Cirrhosis - Decreased liver function - Dysarthria - Dystonia - Elevated hepatic transaminases - Hepatomegaly - Parkinsonism - Polycythemia - Postural instability - Rigidity - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ? [/INST] \n What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorimotor neuropathy 5% Spastic paraparesis 5% Autosomal recessive inheritance - Bradykinesia - Cirrhosis - Decreased liver function - Dysarthria - Dystonia - Elevated hepatic transaminases - Hepatomegaly - Parkinsonism - Polycythemia - Postural instability - Rigidity - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Acromesomelic dysplasia ?
Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Acromesomelic dysplasia ? [/INST] \n Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type[/s]
What are the symptoms of Acromesomelic dysplasia ?
What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head, unusually prominent forehead, pronounced back portion of the head (occipital prominence), a slightly flattened midface, and/or an abnormally small, pug nose. During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis). Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers. During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding. The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Acromesomelic dysplasia ? [/INST] \n What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head, unusually prominent forehead, pronounced back portion of the head (occipital prominence), a slightly flattened midface, and/or an abnormally small, pug nose. During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis). Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers. During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding. The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Infantile Parkinsonism-dystonia ?
What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Chorea - Constipation - Delayed gross motor development - Dyskinesia - Feeding difficulties - Gastroesophageal reflux - Hypertonia - Infantile onset - Limb dystonia - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Parkinsonism - Progressive - Rigidity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Infantile Parkinsonism-dystonia ? [/INST] \n What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Chorea - Constipation - Delayed gross motor development - Dyskinesia - Feeding difficulties - Gastroesophageal reflux - Hypertonia - Infantile onset - Limb dystonia - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Parkinsonism - Progressive - Rigidity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Pierson syndrome ?
Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Pierson syndrome ? [/INST] \n Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.[/s]
What are the symptoms of Pierson syndrome ?
What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life. Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness. Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking. The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Pierson syndrome ? [/INST] \n What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life. Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness. Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking. The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
Is Pierson syndrome inherited ?
How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: Is Pierson syndrome inherited ? [/INST] \n How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier[/s]
How to diagnose Pierson syndrome ?
Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Pierson syndrome ? [/INST] \n Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.[/s]
What is (are) Empty sella syndrome ?
Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Empty sella syndrome ? [/INST] \n Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.[/s]
What are the symptoms of Empty sella syndrome ?
What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Empty sella syndrome ? [/INST] \n What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
Is Empty sella syndrome inherited ?
Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect directly causes ESS or is only a predisposing factor.
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[s][INST] Answer the question truthfully, you are a medical professional. This is the question: Is Empty sella syndrome inherited ? [/INST] \n Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect directly causes ESS or is only a predisposing factor.[/s]
What is (are) Achondroplasia and severe combined immunodeficiency ?
Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Achondroplasia and severe combined immunodeficiency ? [/INST] \n Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.[/s]
What are the symptoms of Achondroplasia and severe combined immunodeficiency ?
What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Achondroplasia and severe combined immunodeficiency ? [/INST] \n What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Gardner-Diamond syndrome ?
Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Gardner-Diamond syndrome ? [/INST] \n Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.[/s]
What are the symptoms of Gardner-Diamond syndrome ?
What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. Episodes of bruising may begin with sensations such as burning, stinging or pain, and may be accompanied by a general feeling of malaise or fatigue. This may be followed by warmth, puffiness, redness and/or itching over the affected area. In some cases, episodes may also be accompanied by fever, headache, or gastrointestinal symptoms. Sometimes, pain and swelling is severe enough to cause immobilization of the affected body part. People have reported that the pain generally subsides when the bruises appear. Bruises typically go away in approximately 7-10 days. However, relapses and remissions of bruising episodes can last for many years. In some cases, symptoms of the condition persist and may worsen. Subsequent episodes are most likely to occur after some sort of physical trauma or stress.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Gardner-Diamond syndrome ? [/INST] \n What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. Episodes of bruising may begin with sensations such as burning, stinging or pain, and may be accompanied by a general feeling of malaise or fatigue. This may be followed by warmth, puffiness, redness and/or itching over the affected area. In some cases, episodes may also be accompanied by fever, headache, or gastrointestinal symptoms. Sometimes, pain and swelling is severe enough to cause immobilization of the affected body part. People have reported that the pain generally subsides when the bruises appear. Bruises typically go away in approximately 7-10 days. However, relapses and remissions of bruising episodes can last for many years. In some cases, symptoms of the condition persist and may worsen. Subsequent episodes are most likely to occur after some sort of physical trauma or stress.[/s]
What causes Gardner-Diamond syndrome ?
What causes Gardner-Diamond syndrome? The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associated with increased levels of glucocorticoids and catecholamines in the body, which may alter processes such as fibrinolysis (the breakdown of blood clots) increased fibrinolysis - an increase in the activity of tissue plasminogen activator (tPA), which can cause a cascade of events that may lead to bleeding autoerythrocyte sensitization - an autoimmune reaction to the affected person's own red blood cells (erythrocytes)
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What causes Gardner-Diamond syndrome ? [/INST] \n What causes Gardner-Diamond syndrome? The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associated with increased levels of glucocorticoids and catecholamines in the body, which may alter processes such as fibrinolysis (the breakdown of blood clots) increased fibrinolysis - an increase in the activity of tissue plasminogen activator (tPA), which can cause a cascade of events that may lead to bleeding autoerythrocyte sensitization - an autoimmune reaction to the affected person's own red blood cells (erythrocytes)[/s]
How to diagnose Gardner-Diamond syndrome ?
How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding). A detailed psychiatric evaluation is of huge importance if GDS is suspected, with information concerning how the person has responded to major stressful events in his or her life (such as fetal losses, death in the family, divorce, loss of income). While the underlying cause of GDS is unknown, an abnormal psychiatric history is virtually always present.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Gardner-Diamond syndrome ? [/INST] \n How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding). A detailed psychiatric evaluation is of huge importance if GDS is suspected, with information concerning how the person has responded to major stressful events in his or her life (such as fetal losses, death in the family, divorce, loss of income). While the underlying cause of GDS is unknown, an abnormal psychiatric history is virtually always present.[/s]
What are the treatments for Gardner-Diamond syndrome ?
How might Gardner-Diamond syndrome be treated? There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. In some people, psychiatric medications for mental illness have helped to improve the symptoms. For example, in a person with GDS and an underlying personality disorder, medications used to treat the personality disorder may help with the symptoms of GDS. Due to the presumed psychological nature of the disease, placebo effect has been used successfully to ease the severity of symptoms. It has been proposed that certain medications used to alter the tonus of the capillaries (how they contract), the permeability of the vessels, and/or the flowing properties of the blood may be useful for some people. Symptomatic therapy may be helpful for severe, general symptoms. Several approaches including antihistamines, corticosteroids, antidepressants, hormones, and vitamins have had variable success.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Gardner-Diamond syndrome ? [/INST] \n How might Gardner-Diamond syndrome be treated? There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. In some people, psychiatric medications for mental illness have helped to improve the symptoms. For example, in a person with GDS and an underlying personality disorder, medications used to treat the personality disorder may help with the symptoms of GDS. Due to the presumed psychological nature of the disease, placebo effect has been used successfully to ease the severity of symptoms. It has been proposed that certain medications used to alter the tonus of the capillaries (how they contract), the permeability of the vessels, and/or the flowing properties of the blood may be useful for some people. Symptomatic therapy may be helpful for severe, general symptoms. Several approaches including antihistamines, corticosteroids, antidepressants, hormones, and vitamins have had variable success.[/s]
What is (are) Achondrogenesis type 2 ?
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Achondrogenesis type 2 ? [/INST] \n Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.[/s]
What are the symptoms of Achondrogenesis type 2 ?
What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Polyhydramnios 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormality of the foot - Absent vertebral body mineralization - Autosomal dominant inheritance - Barrel-shaped chest - Broad long bones - Cleft palate - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Horizontal ribs - Hypoplastic iliac wing - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Achondrogenesis type 2 ? [/INST] \n What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Polyhydramnios 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormality of the foot - Absent vertebral body mineralization - Autosomal dominant inheritance - Barrel-shaped chest - Broad long bones - Cleft palate - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Horizontal ribs - Hypoplastic iliac wing - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Pearson syndrome ?
Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Pearson syndrome ? [/INST] \n Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.[/s]
What are the symptoms of Pearson syndrome ?
What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Abnormality of the heme biosynthetic pathway 90% Anemia 90% Delayed skeletal maturation 90% Exocrine pancreatic insufficiency 90% Intrauterine growth retardation 90% Malabsorption 90% Muscular hypotonia 90% Reduced bone mineral density 90% Type I diabetes mellitus 90% 3-Methylglutaric aciduria - Complex organic aciduria - Failure to thrive - Lactic acidosis - Metabolic acidosis - Mitochondrial inheritance - Pancreatic fibrosis - Refractory sideroblastic anemia - Renal Fanconi syndrome - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Pearson syndrome ? [/INST] \n What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Abnormality of the heme biosynthetic pathway 90% Anemia 90% Delayed skeletal maturation 90% Exocrine pancreatic insufficiency 90% Intrauterine growth retardation 90% Malabsorption 90% Muscular hypotonia 90% Reduced bone mineral density 90% Type I diabetes mellitus 90% 3-Methylglutaric aciduria - Complex organic aciduria - Failure to thrive - Lactic acidosis - Metabolic acidosis - Mitochondrial inheritance - Pancreatic fibrosis - Refractory sideroblastic anemia - Renal Fanconi syndrome - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Multiple pterygium syndrome Escobar type ?
Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Multiple pterygium syndrome Escobar type ? [/INST] \n Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.[/s]
What are the symptoms of Multiple pterygium syndrome Escobar type ?
What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora. People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome Escobar type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Multiple pterygium syndrome Escobar type ? [/INST] \n What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora. People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome Escobar type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What causes Multiple pterygium syndrome Escobar type ?
What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What causes Multiple pterygium syndrome Escobar type ? [/INST] \n What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion.[/s]
How to diagnose Multiple pterygium syndrome Escobar type ?
How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis. Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Multiple pterygium syndrome Escobar type ? [/INST] \n How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis. Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.[/s]
What are the treatments for Multiple pterygium syndrome Escobar type ?
How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the patient should be referred to ophthalmology. Patients should also be referred to audiology due to the risk of conductive hearing loss.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Multiple pterygium syndrome Escobar type ? [/INST] \n How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the patient should be referred to ophthalmology. Patients should also be referred to audiology due to the risk of conductive hearing loss.[/s]
What is (are) Tetrasomy X ?
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Tetrasomy X ? [/INST] \n Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.[/s]
What are the symptoms of Tetrasomy X ?
What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the teeth 50% Cognitive impairment 50% Epicanthus 50% Hypertelorism 50% Joint hypermobility 50% Muscular hypotonia 50% Radioulnar synostosis 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Secondary amenorrhea 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Tetrasomy X ? [/INST] \n What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the teeth 50% Cognitive impairment 50% Epicanthus 50% Hypertelorism 50% Joint hypermobility 50% Muscular hypotonia 50% Radioulnar synostosis 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Secondary amenorrhea 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What causes Tetrasomy X ?
What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What causes Tetrasomy X ? [/INST] \n What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells.[/s]
What are the symptoms of Pancreatic cancer, childhood ?
What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the pancreas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Pancreatic cancer, childhood ? [/INST] \n What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the pancreas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Radio renal syndrome ?
What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the elbow 90% Abnormality of the palate 90% Abnormality of the pleura 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Micromelia 90% Multicystic kidney dysplasia 90% Renal hypoplasia/aplasia 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Abnormality of chromosome stability - Absent radius - Absent thumb - Autosomal dominant inheritance - Ectopic kidney - External ear malformation - Renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Radio renal syndrome ? [/INST] \n What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the elbow 90% Abnormality of the palate 90% Abnormality of the pleura 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Micromelia 90% Multicystic kidney dysplasia 90% Renal hypoplasia/aplasia 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Abnormality of chromosome stability - Absent radius - Absent thumb - Autosomal dominant inheritance - Ectopic kidney - External ear malformation - Renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Madelung disease ?
Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism. Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Madelung disease ? [/INST] \n Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism. Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol.[/s]
What are the symptoms of Madelung disease ?
What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years. The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues. In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Madelung disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Limitation of joint mobility 90% Multiple lipomas 90% Gait disturbance 50% Hepatomegaly 50% Insulin resistance 50% Paresthesia 50% Abnormality of the skin - Autosomal dominant inheritance - Lipoma - Peripheral neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Madelung disease ? [/INST] \n What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years. The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues. In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Madelung disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Limitation of joint mobility 90% Multiple lipomas 90% Gait disturbance 50% Hepatomegaly 50% Insulin resistance 50% Paresthesia 50% Abnormality of the skin - Autosomal dominant inheritance - Lipoma - Peripheral neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What causes Madelung disease ?
What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What causes Madelung disease ? [/INST] \n What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.[/s]
Is Madelung disease inherited ?
Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: Is Madelung disease inherited ? [/INST] \n Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.[/s]
How to diagnose Madelung disease ?
How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Madelung disease ? [/INST] \n How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.[/s]
What are the treatments for Madelung disease ?
How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Madelung disease ? [/INST] \n How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.[/s]
What are the symptoms of Bangstad syndrome ?
What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the parathyroid gland 90% Abnormality of the teeth 90% Abnormality of the testis 90% Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Deviation of finger 90% EEG abnormality 90% Hypercortisolism 90% Hyperinsulinemia 90% Hypothyroidism 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Polycystic ovaries 90% Seizures 90% Short stature 90% Sloping forehead 90% Type I diabetes mellitus 90% Autosomal recessive inheritance - Brain very small - Cerebral hypoplasia - Goiter - Insulin-resistant diabetes mellitus - Intellectual disability - Large eyes - Narrow face - Pancytopenia - Primary gonadal insufficiency - Progressive cerebellar ataxia - Retrognathia - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Bangstad syndrome ? [/INST] \n What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the parathyroid gland 90% Abnormality of the teeth 90% Abnormality of the testis 90% Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Deviation of finger 90% EEG abnormality 90% Hypercortisolism 90% Hyperinsulinemia 90% Hypothyroidism 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Polycystic ovaries 90% Seizures 90% Short stature 90% Sloping forehead 90% Type I diabetes mellitus 90% Autosomal recessive inheritance - Brain very small - Cerebral hypoplasia - Goiter - Insulin-resistant diabetes mellitus - Intellectual disability - Large eyes - Narrow face - Pancytopenia - Primary gonadal insufficiency - Progressive cerebellar ataxia - Retrognathia - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Fetal hydantoin syndrome ?
Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head (microcephaly) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Fetal hydantoin syndrome ? [/INST] \n Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head (microcephaly) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive.[/s]
What are the symptoms of Fetal hydantoin syndrome ?
What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. Few infants exposed only to phenytoin have all of the characteristic that have been reported. Children with this condition may be small at birth, with increased hair on the body and face, and with poorly developed fingernails and toenails. They may also have poor muscle tone. Facial features that may be present with this syndrome include a flat bridge of the nose; an underdeveloped vertical groove in the center of the upper lip (philtrum); a large mouth; and malformed ears. Features specific to the eyes may include down-slanted eyes; widely spaced eyes (hypertelorism); crossed eyes (strabismus); drooping eyelids (ptosis); and/or epicanthal folds (skin folds of the eyelid covering the inner corner of the eye). Other features that have been reported include a short or webbed neck and low-set hair line. Growth deficiencies may include underdeveloped fingers and/or toes, malformed nails, as well as finger-like thumbs. These features are often associated with growth delay and varying degrees of developmental delay. The risk for an affected child to be neurologically impaired is estimated at 1 to 11 % (two to three times higher than for the general population). The risk of cleft lip and/or palate and heart defects is estimated to be about five times higher among exposed infants. Some case reports have suggested an increased risk for the occurrence of benign (noncancerous) or malignant (cancerous) tumors, such as neuroblastoma or other neonatal tumors (ependymoma, ectodermal tumors, Wilms tumor). The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal hydantoin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Depressed nasal ridge 90% Hearing abnormality 90% Low-set, posteriorly rotated ears 90% Short nose 90% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nipple 50% Anonychia 50% Bifid scrotum 50% Brachydactyly syndrome 50% Coarse hair 50% Cognitive impairment 50% Epicanthus 50% Hernia 50% Hypertelorism 50% Intrauterine growth retardation 50% Low posterior hairline 50% Microcephaly 50% Ptosis 50% Short stature 50% Strabismus 50% Thickened nuchal skin fold 50% Triphalangeal thumb 50% Wide mouth 50% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Neoplasm 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Fetal hydantoin syndrome ? [/INST] \n What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. Few infants exposed only to phenytoin have all of the characteristic that have been reported. Children with this condition may be small at birth, with increased hair on the body and face, and with poorly developed fingernails and toenails. They may also have poor muscle tone. Facial features that may be present with this syndrome include a flat bridge of the nose; an underdeveloped vertical groove in the center of the upper lip (philtrum); a large mouth; and malformed ears. Features specific to the eyes may include down-slanted eyes; widely spaced eyes (hypertelorism); crossed eyes (strabismus); drooping eyelids (ptosis); and/or epicanthal folds (skin folds of the eyelid covering the inner corner of the eye). Other features that have been reported include a short or webbed neck and low-set hair line. Growth deficiencies may include underdeveloped fingers and/or toes, malformed nails, as well as finger-like thumbs. These features are often associated with growth delay and varying degrees of developmental delay. The risk for an affected child to be neurologically impaired is estimated at 1 to 11 % (two to three times higher than for the general population). The risk of cleft lip and/or palate and heart defects is estimated to be about five times higher among exposed infants. Some case reports have suggested an increased risk for the occurrence of benign (noncancerous) or malignant (cancerous) tumors, such as neuroblastoma or other neonatal tumors (ependymoma, ectodermal tumors, Wilms tumor). The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal hydantoin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Depressed nasal ridge 90% Hearing abnormality 90% Low-set, posteriorly rotated ears 90% Short nose 90% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nipple 50% Anonychia 50% Bifid scrotum 50% Brachydactyly syndrome 50% Coarse hair 50% Cognitive impairment 50% Epicanthus 50% Hernia 50% Hypertelorism 50% Intrauterine growth retardation 50% Low posterior hairline 50% Microcephaly 50% Ptosis 50% Short stature 50% Strabismus 50% Thickened nuchal skin fold 50% Triphalangeal thumb 50% Wide mouth 50% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Neoplasm 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ?
What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ? [/INST] \n What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Radio-ulnar synostosis type 2 ?
What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Radio-ulnar synostosis type 2 ? [/INST] \n What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What are the symptoms of Microcephaly deafness syndrome ?
What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Epicanthus 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Sensorineural hearing impairment 90% Abnormality of the palate 50% Neurological speech impairment 50% Preauricular skin tag 50% Short stature 50% Autosomal dominant inheritance - Cupped ear - Hearing impairment - Intellectual disability - Prominent glabella - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Microcephaly deafness syndrome ? [/INST] \n What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Epicanthus 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Sensorineural hearing impairment 90% Abnormality of the palate 50% Neurological speech impairment 50% Preauricular skin tag 50% Short stature 50% Autosomal dominant inheritance - Cupped ear - Hearing impairment - Intellectual disability - Prominent glabella - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ?
BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ? [/INST] \n BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.[/s]
What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ?
What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Breast carcinoma - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ? [/INST] \n What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Breast carcinoma - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]
What is (are) Logopenic progressive aphasia ?
Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well articulated and grammatically correct with good single-word comprehension. But over time, affected individuals may have trouble understanding long or complex verbal information, due to problems holding onto lengthy information that they hear. Language difficulties associated with LPA are due to shrinking, or atrophy, in the left posterior temporal cortex and inferior parietal lobule. Click here to view an image of the lobes of the brain.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What is (are) Logopenic progressive aphasia ? [/INST] \n Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well articulated and grammatically correct with good single-word comprehension. But over time, affected individuals may have trouble understanding long or complex verbal information, due to problems holding onto lengthy information that they hear. Language difficulties associated with LPA are due to shrinking, or atrophy, in the left posterior temporal cortex and inferior parietal lobule. Click here to view an image of the lobes of the brain.[/s]
What are the treatments for Logopenic progressive aphasia ?
How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the treatments for Logopenic progressive aphasia ? [/INST] \n How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf[/s]
What are the symptoms of Baraitser-Winter syndrome ?
What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of phalanx of hallux 5% Highly arched eyebrow 5% Microphthalmia 5% Oral cleft 5% Retrognathia 5% Ventriculomegaly 5% Abnormality of metabolism/homeostasis - Agenesis of corpus callosum - Anteverted nares - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicuspid aortic valve - Chorioretinal coloboma - Cryptorchidism - Hypertelorism - Intellectual disability - Iris coloboma - Lissencephaly - Long palpebral fissure - Long philtrum - Low posterior hairline - Low-set ears - Microcephaly - Micropenis - Muscular hypotonia - Overfolded helix - Pachygyria - Patent ductus arteriosus - Pointed chin - Postnatal growth retardation - Prominent epicanthal folds - Ptosis - Seizures - Sensorineural hearing impairment - Short neck - Short nose - Short stature - Trigonocephaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
[s][INST] Answer the question truthfully, you are a medical professional. This is the question: What are the symptoms of Baraitser-Winter syndrome ? [/INST] \n What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of phalanx of hallux 5% Highly arched eyebrow 5% Microphthalmia 5% Oral cleft 5% Retrognathia 5% Ventriculomegaly 5% Abnormality of metabolism/homeostasis - Agenesis of corpus callosum - Anteverted nares - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicuspid aortic valve - Chorioretinal coloboma - Cryptorchidism - Hypertelorism - Intellectual disability - Iris coloboma - Lissencephaly - Long palpebral fissure - Long philtrum - Low posterior hairline - Low-set ears - Microcephaly - Micropenis - Muscular hypotonia - Overfolded helix - Pachygyria - Patent ductus arteriosus - Pointed chin - Postnatal growth retardation - Prominent epicanthal folds - Ptosis - Seizures - Sensorineural hearing impairment - Short neck - Short nose - Short stature - Trigonocephaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.[/s]