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What are the treatments for Cowden syndrome ?
How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Cancer Screening for Women Breast self exams beginning at age 18 Clinical breast exams every 6-12 months beginning at age 25** Annual mammogram and breast MRI beginning at age 30-35** Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35 Prophylactic surgeries may be considered as a preventative option for some forms of cancer Cancer Screening for Men and Women Annual physical examination beginning at age 18** Annual thyroid ultrasound beginning at age 18** Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified) Consider renal (kidney) ultrasound every 1-2 years beginning at age 40 **or individualized based on the earliest diagnosis of cancer in the family GeneReviews offers more specific information on the treatment and management of Cowden syndrome. To access this resource, please click here.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Cowden syndrome ? assistant How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Cancer Screening for Women Breast self exams beginning at age 18 Clinical breast exams every 6-12 months beginning at age 25** Annual mammogram and breast MRI beginning at age 30-35** Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35 Prophylactic surgeries may be considered as a preventative option for some forms of cancer Cancer Screening for Men and Women Annual physical examination beginning at age 18** Annual thyroid ultrasound beginning at age 18** Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified) Consider renal (kidney) ultrasound every 1-2 years beginning at age 40 **or individualized based on the earliest diagnosis of cancer in the family GeneReviews offers more specific information on the treatment and management of Cowden syndrome. To access this resource, please click here.
What is (are) Blue cone monochromatism ?
Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Blue cone monochromatism ? assistant Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.
What are the symptoms of Blue cone monochromatism ?
What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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) Nystagmus 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - X-linked recessive 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.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Blue cone monochromatism ? assistant What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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) Nystagmus 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - X-linked recessive 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.
What is (are) Hairy cell leukemia ?
Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The underlying cause of this condition is unknown. While there is no cure, treatment can lead to remission which can last for years.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hairy cell leukemia ? assistant Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The underlying cause of this condition is unknown. While there is no cure, treatment can lead to remission which can last for years.
What are the symptoms of Preaxial polydactyly type 1 ?
What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 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) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - 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.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Preaxial polydactyly type 1 ? assistant What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 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) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - 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.
What is (are) Barrett esophagus ?
Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Barrett esophagus ? assistant Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases.
What are the symptoms of Barrett esophagus ?
What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. However, Barrett esophagus is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). GERD may be associated with symptoms such as frequent heartburn, difficulty swallowing food, and/or chest pain (less commonly). People with Barrett esophagus do have a greater risk than the general population of developing esophageal cancer. However, the overall risk is still low as less than 0.5 percent of people with Barrett esophagus develop cancer of the esophagus each year. The Human Phenotype Ontology provides the following list of signs and symptoms for Barrett esophagus. 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 abdominal organs 90% Neoplasm 50% 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.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Barrett esophagus ? assistant What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. However, Barrett esophagus is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). GERD may be associated with symptoms such as frequent heartburn, difficulty swallowing food, and/or chest pain (less commonly). People with Barrett esophagus do have a greater risk than the general population of developing esophageal cancer. However, the overall risk is still low as less than 0.5 percent of people with Barrett esophagus develop cancer of the esophagus each year. The Human Phenotype Ontology provides the following list of signs and symptoms for Barrett esophagus. 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 abdominal organs 90% Neoplasm 50% 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.
What causes Barrett esophagus ?
What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may decrease the risk include having a Helicobacter pylori (H. pylori) infection; frequent use of aspirin or other nonsteroidal anti-inflammatory drugs; and a diet high in fruits, vegetables, and certain vitamins.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What causes Barrett esophagus ? assistant What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may decrease the risk include having a Helicobacter pylori (H. pylori) infection; frequent use of aspirin or other nonsteroidal anti-inflammatory drugs; and a diet high in fruits, vegetables, and certain vitamins.
Is Barrett esophagus inherited ?
Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: Is Barrett esophagus inherited ? assistant Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings.
How to diagnose Barrett esophagus ?
How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Barrett esophagus ? assistant How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource.
What are the treatments for Barrett esophagus ?
How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. This may include certain medications and lifestyle modifications such as avoiding smoking; eliminating food and drinks that trigger heartburn; raising the head of the bed while sleeping; and/or avoiding late night snacking. Periodic endoscopy may also be recommended to monitor Barrett esophagus as other treatments may be indicated if the condition advances. Because high-grade dysplasia is thought to be the final step before cells change into esophageal cancer, more aggressive treatments are typically recommended. These may include:[ Endoscopic resection - an endoscope is used to remove damaged cells Endoscopic ablative therapies - different techniques such as photodynamic therapy or radiofrequency ablation are used to destroy the dysplasia in the esophagus. In photodynamic therapy, abnormal cells are destroyed by making them sensitive to light, while radiofrequency ablation uses heat to remove abnormal esophagus tissue. Surgery - the damaged part of the esophagus is removed and the remaining portion is attached to the stomach The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the treatment and management of Barret esophagus. Please click on the link to access this resource.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Barrett esophagus ? assistant How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. This may include certain medications and lifestyle modifications such as avoiding smoking; eliminating food and drinks that trigger heartburn; raising the head of the bed while sleeping; and/or avoiding late night snacking. Periodic endoscopy may also be recommended to monitor Barrett esophagus as other treatments may be indicated if the condition advances. Because high-grade dysplasia is thought to be the final step before cells change into esophageal cancer, more aggressive treatments are typically recommended. These may include:[ Endoscopic resection - an endoscope is used to remove damaged cells Endoscopic ablative therapies - different techniques such as photodynamic therapy or radiofrequency ablation are used to destroy the dysplasia in the esophagus. In photodynamic therapy, abnormal cells are destroyed by making them sensitive to light, while radiofrequency ablation uses heat to remove abnormal esophagus tissue. Surgery - the damaged part of the esophagus is removed and the remaining portion is attached to the stomach The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the treatment and management of Barret esophagus. Please click on the link to access this resource.
What is (are) Non-A-E hepatitis ?
Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen, and fever. Non-A-E hepatitis usually goes away on its own, but it can become a chronic condition in a small proportion (12%) of affected individuals. The cause of non-A-E hepatitis is currently unknown.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Non-A-E hepatitis ? assistant Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen, and fever. Non-A-E hepatitis usually goes away on its own, but it can become a chronic condition in a small proportion (12%) of affected individuals. The cause of non-A-E hepatitis is currently unknown.
What are the symptoms of Negative rheumatoid factor polyarthritis ?
What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. 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) Autoimmune antibody positivity - 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.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Negative rheumatoid factor polyarthritis ? assistant What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. 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) Autoimmune antibody positivity - 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.
What is (are) Menkes disease ?
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy. Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may slightly improve the prognosis in some affected children.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Menkes disease ? assistant Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy. Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may slightly improve the prognosis in some affected children.
What are the symptoms of Menkes disease ?
What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes 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) Abnormal hair quantity 90% Abnormality of the palate 90% Aneurysm 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Developmental regression 90% Dry skin 90% Feeding difficulties in infancy 90% Full cheeks 90% Hyperextensible skin 90% Hypertonia 90% Hypopigmentation of hair 90% Intracranial hemorrhage 90% Joint hypermobility 90% Microcephaly 90% Muscular hypotonia 90% Pectus excavatum 90% Seizures 90% Umbilical hernia 90% Woolly hair 90% Abnormality of the carotid arteries 50% Abnormality of the liver 50% Arterial stenosis 50% Atypical scarring of skin 50% Behavioral abnormality 50% Cognitive impairment 50% Exostoses 50% Malabsorption 50% Mask-like facies 50% Muscle weakness 50% Narrow chest 50% Nausea and vomiting 50% Prominent occiput 50% Thickened skin 50% Venous insufficiency 50% Wormian bones 50% Bladder diverticulum 7.5% Bowing of the long bones 7.5% Chondrocalcinosis 7.5% Chorea 7.5% Gastrointestinal hemorrhage 7.5% Hypoglycemia 7.5% Hypothermia 7.5% Intrauterine growth retardation 7.5% Osteomyelitis 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sepsis 7.5% Spontaneous hematomas 7.5% Tarsal synostosis 7.5% Abnormality of the face - Brachycephaly - Cutis laxa - Death in childhood - Hypopigmentation of the skin - Intellectual disability - Joint laxity - Metaphyseal spurs - Metaphyseal widening - Osteoporosis - Short stature - Sparse hair - X-linked recessive 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.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Menkes disease ? assistant What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes 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) Abnormal hair quantity 90% Abnormality of the palate 90% Aneurysm 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Developmental regression 90% Dry skin 90% Feeding difficulties in infancy 90% Full cheeks 90% Hyperextensible skin 90% Hypertonia 90% Hypopigmentation of hair 90% Intracranial hemorrhage 90% Joint hypermobility 90% Microcephaly 90% Muscular hypotonia 90% Pectus excavatum 90% Seizures 90% Umbilical hernia 90% Woolly hair 90% Abnormality of the carotid arteries 50% Abnormality of the liver 50% Arterial stenosis 50% Atypical scarring of skin 50% Behavioral abnormality 50% Cognitive impairment 50% Exostoses 50% Malabsorption 50% Mask-like facies 50% Muscle weakness 50% Narrow chest 50% Nausea and vomiting 50% Prominent occiput 50% Thickened skin 50% Venous insufficiency 50% Wormian bones 50% Bladder diverticulum 7.5% Bowing of the long bones 7.5% Chondrocalcinosis 7.5% Chorea 7.5% Gastrointestinal hemorrhage 7.5% Hypoglycemia 7.5% Hypothermia 7.5% Intrauterine growth retardation 7.5% Osteomyelitis 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sepsis 7.5% Spontaneous hematomas 7.5% Tarsal synostosis 7.5% Abnormality of the face - Brachycephaly - Cutis laxa - Death in childhood - Hypopigmentation of the skin - Intellectual disability - Joint laxity - Metaphyseal spurs - Metaphyseal widening - Osteoporosis - Short stature - Sparse hair - X-linked recessive 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.
What are the symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation ?
What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. 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 retinal pigmentation 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Autosomal recessive inheritance - Hearing impairment - Intellectual disability - Rod-cone dystrophy - Spastic tetraplegia - Visual loss - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation ? assistant What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. 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 retinal pigmentation 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Autosomal recessive inheritance - Hearing impairment - Intellectual disability - Rod-cone dystrophy - Spastic tetraplegia - Visual loss - 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.
What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ?
What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. 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) Anemia - Autosomal recessive inheritance - Decreased CSF homovanillic acid (HVA) - Encephalopathy - Failure to thrive - Feeding difficulties in infancy - Hypoglycemia - Increased serum lactate - Metabolic acidosis - Muscular hypotonia of the trunk - Myoclonus - Premature birth - Progressive microcephaly - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ? assistant What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. 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) Anemia - Autosomal recessive inheritance - Decreased CSF homovanillic acid (HVA) - Encephalopathy - Failure to thrive - Feeding difficulties in infancy - Hypoglycemia - Increased serum lactate - Metabolic acidosis - Muscular hypotonia of the trunk - Myoclonus - Premature birth - Progressive microcephaly - 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.
What is (are) Complete androgen insensitivity syndrome ?
Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Complete androgen insensitivity syndrome ? assistant Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty.
What are the symptoms of Complete androgen insensitivity syndrome ?
What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity 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 hair quantity 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Primary amenorrhea 90% Tall stature 90% Hernia of the abdominal wall 50% Reduced bone mineral density 50% Flexion contracture 7.5% Gynecomastia 7.5% Testicular neoplasm 7.5% Tremor 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Complete androgen insensitivity syndrome ? assistant What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity 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 hair quantity 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Primary amenorrhea 90% Tall stature 90% Hernia of the abdominal wall 50% Reduced bone mineral density 50% Flexion contracture 7.5% Gynecomastia 7.5% Testicular neoplasm 7.5% Tremor 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.
What are the symptoms of Hypocalcemia, autosomal dominant ?
What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal 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) Behavioral abnormality 90% EMG abnormality 90% Flexion contracture 90% Hypercalciuria 90% Hypocalcemia 90% Involuntary movements 90% Paresthesia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of the fingernails 50% Alopecia 50% Arrhythmia 50% Dry skin 50% Hyperphosphatemia 50% Hypotension 50% Nephrolithiasis 50% Congestive heart failure 7.5% Eczema 7.5% Increased intracranial pressure 7.5% Irregular hyperpigmentation 7.5% Optic atrophy 7.5% Reduced bone mineral density 7.5% Reduced consciousness/confusion 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypocalcemia, autosomal dominant ? assistant What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal 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) Behavioral abnormality 90% EMG abnormality 90% Flexion contracture 90% Hypercalciuria 90% Hypocalcemia 90% Involuntary movements 90% Paresthesia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of the fingernails 50% Alopecia 50% Arrhythmia 50% Dry skin 50% Hyperphosphatemia 50% Hypotension 50% Nephrolithiasis 50% Congestive heart failure 7.5% Eczema 7.5% Increased intracranial pressure 7.5% Irregular hyperpigmentation 7.5% Optic atrophy 7.5% Reduced bone mineral density 7.5% Reduced consciousness/confusion 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.
What is (are) Isolated ectopia lentis ?
Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses (cataracts), and increased pressure in the eyes (glaucoma). In some individuals, IEL can progress to retinal detachment (tearing of the back lining of the eye). IEL is caused by mutations in either the FBN1 or ADAMTSL4 gene. When caused by a mutation in the FBN1 gene, IEL is inherited in an autosomal dominant manner. When caused by a mutation in the ADAMTSL4 gene, IEL is inherited in an autosomal recessive manner. The primary goal of treatment is preventing amblyopia (lazy eye) through early correction of astigmatism. Surgical intervention including lensectomy (removal of the lens) may be considered in cases where vision is significantly affected.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Isolated ectopia lentis ? assistant Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses (cataracts), and increased pressure in the eyes (glaucoma). In some individuals, IEL can progress to retinal detachment (tearing of the back lining of the eye). IEL is caused by mutations in either the FBN1 or ADAMTSL4 gene. When caused by a mutation in the FBN1 gene, IEL is inherited in an autosomal dominant manner. When caused by a mutation in the ADAMTSL4 gene, IEL is inherited in an autosomal recessive manner. The primary goal of treatment is preventing amblyopia (lazy eye) through early correction of astigmatism. Surgical intervention including lensectomy (removal of the lens) may be considered in cases where vision is significantly affected.
What are the symptoms of Isolated ectopia lentis ?
What are the signs and symptoms of Isolated ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ectopia lentis. 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) Corneal dystrophy 90% Ectopia lentis 90% Flat cornea 90% Astigmatism 50% Glaucoma 50% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the lens 7.5% Disproportionate tall stature 7.5% Hypermetropia 7.5% Lens coloboma 7.5% Limitation of joint mobility 7.5% Retinal detachment 7.5% Visual impairment 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Isolated ectopia lentis ? assistant What are the signs and symptoms of Isolated ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ectopia lentis. 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) Corneal dystrophy 90% Ectopia lentis 90% Flat cornea 90% Astigmatism 50% Glaucoma 50% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the lens 7.5% Disproportionate tall stature 7.5% Hypermetropia 7.5% Lens coloboma 7.5% Limitation of joint mobility 7.5% Retinal detachment 7.5% Visual impairment 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.
What is (are) Hypolipoproteinemia ?
Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hypolipoproteinemia ? assistant Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.
What are the symptoms of Hypolipoproteinemia ?
Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypolipoproteinemia ? assistant Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.
What causes Hypolipoproteinemia ?
What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease. Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition. In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified. People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others have developed fatty liver, intestinal fat malabsorption, and neurological problems. Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood. Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment. Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to: Lecithin acyltransferase deficiency Tangier Disease
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Hypolipoproteinemia ? assistant What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease. Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition. In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified. People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others have developed fatty liver, intestinal fat malabsorption, and neurological problems. Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood. Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment. Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to: Lecithin acyltransferase deficiency Tangier Disease
What is (are) Cronkhite-Canada disease ?
Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control symptoms and provide adequate nutrition.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Cronkhite-Canada disease ? assistant Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control symptoms and provide adequate nutrition.
What are the symptoms of Cronkhite-Canada disease ?
What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada 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) Abnormality of nail color 90% Abnormality of the fingernails 90% Alopecia 90% Generalized hyperpigmentation 90% Hypoplastic toenails 90% Intestinal polyposis 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the stomach 90% Abdominal pain 50% Anemia 50% Anorexia 50% Aplasia/Hypoplasia of the eyebrow 50% Autoimmunity 50% Gastrointestinal hemorrhage 50% Hypopigmented skin patches 50% Lymphedema 50% Neoplasm of the small intestine 50% Abnormality of the sense of smell 7.5% Cataract 7.5% Congestive heart failure 7.5% Decreased body weight 7.5% Feeding difficulties in infancy 7.5% Furrowed tongue 7.5% Glomerulopathy 7.5% Hepatomegaly 7.5% Hypoproteinemia 7.5% Hypothyroidism 7.5% Macrocephaly 7.5% Paresthesia 7.5% Seizures 7.5% Splenomegaly 7.5% Tapered finger 7.5% Cachexia - Clubbing - Clubbing of fingers - Diarrhea - Gastrointestinal carcinoma - Glossitis - Hamartomatous polyposis - Hematochezia - Hyperpigmentation of the skin - Hypocalcemia - Hypokalemia - Hypomagnesemia - Muscle weakness - Nail dysplasia - Nail dystrophy - Protein-losing enteropathy - Sporadic - Thromboembolism - Vomiting - Xerostomia - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cronkhite-Canada disease ? assistant What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada 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) Abnormality of nail color 90% Abnormality of the fingernails 90% Alopecia 90% Generalized hyperpigmentation 90% Hypoplastic toenails 90% Intestinal polyposis 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the stomach 90% Abdominal pain 50% Anemia 50% Anorexia 50% Aplasia/Hypoplasia of the eyebrow 50% Autoimmunity 50% Gastrointestinal hemorrhage 50% Hypopigmented skin patches 50% Lymphedema 50% Neoplasm of the small intestine 50% Abnormality of the sense of smell 7.5% Cataract 7.5% Congestive heart failure 7.5% Decreased body weight 7.5% Feeding difficulties in infancy 7.5% Furrowed tongue 7.5% Glomerulopathy 7.5% Hepatomegaly 7.5% Hypoproteinemia 7.5% Hypothyroidism 7.5% Macrocephaly 7.5% Paresthesia 7.5% Seizures 7.5% Splenomegaly 7.5% Tapered finger 7.5% Cachexia - Clubbing - Clubbing of fingers - Diarrhea - Gastrointestinal carcinoma - Glossitis - Hamartomatous polyposis - Hematochezia - Hyperpigmentation of the skin - Hypocalcemia - Hypokalemia - Hypomagnesemia - Muscle weakness - Nail dysplasia - Nail dystrophy - Protein-losing enteropathy - Sporadic - Thromboembolism - Vomiting - Xerostomia - 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.
What is (are) Acute febrile neutrophilic dermatosis ?
Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. In some people, it's triggered by an infection, illness or certain medications. This condition can also occur with some types of cancer and other serious health problems. Most often, it isn't serious and will clear on its own in a few months. Healing is much more rapid, however, with treatment.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Acute febrile neutrophilic dermatosis ? assistant Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. In some people, it's triggered by an infection, illness or certain medications. This condition can also occur with some types of cancer and other serious health problems. Most often, it isn't serious and will clear on its own in a few months. Healing is much more rapid, however, with treatment.
What are the symptoms of Acute febrile neutrophilic dermatosis ?
What are the signs and symptoms of Acute febrile neutrophilic dermatosis? The most obvious signs of acute febrile neutrophilic dermatosis are distinctive skin lesions that usually develop according to a specific pattern. Typically, a series of small red bumps appear suddenly on the back, neck, arms and face, often after a fever or upper respiratory infection. The bumps grow quickly in size, spreading into clusters called plaques that may be a centimeter in diameter or larger. The eruptions are tender or painful and may develop blisters, pustules or even ulcers. Lesions may persist for weeks to months and then disappear on their own, without medication. With medical treatment, the skin lesions may resolve in just a few days. Other signs and symptoms of acute febrile neutrophilic dermatosis may include: Moderate to high fever Pink eye (conjunctivitis) or sore eyes Tiredness Aching joints and headache Mouth ulcers The Human Phenotype Ontology provides the following list of signs and symptoms for Acute febrile neutrophilic dermatosis. 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% Arthralgia 90% Hypermelanotic macule 90% Leukocytosis 90% Migraine 90% Myalgia 90% Skin rash 90% Skin ulcer 90% Splenomegaly 90% Hyperkeratosis 50% Abnormal blistering of the skin 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Pustule 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Thrombocytopenia 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Acute febrile neutrophilic dermatosis ? assistant What are the signs and symptoms of Acute febrile neutrophilic dermatosis? The most obvious signs of acute febrile neutrophilic dermatosis are distinctive skin lesions that usually develop according to a specific pattern. Typically, a series of small red bumps appear suddenly on the back, neck, arms and face, often after a fever or upper respiratory infection. The bumps grow quickly in size, spreading into clusters called plaques that may be a centimeter in diameter or larger. The eruptions are tender or painful and may develop blisters, pustules or even ulcers. Lesions may persist for weeks to months and then disappear on their own, without medication. With medical treatment, the skin lesions may resolve in just a few days. Other signs and symptoms of acute febrile neutrophilic dermatosis may include: Moderate to high fever Pink eye (conjunctivitis) or sore eyes Tiredness Aching joints and headache Mouth ulcers The Human Phenotype Ontology provides the following list of signs and symptoms for Acute febrile neutrophilic dermatosis. 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% Arthralgia 90% Hypermelanotic macule 90% Leukocytosis 90% Migraine 90% Myalgia 90% Skin rash 90% Skin ulcer 90% Splenomegaly 90% Hyperkeratosis 50% Abnormal blistering of the skin 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Pustule 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Thrombocytopenia 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.
What causes Acute febrile neutrophilic dermatosis ?
What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Acute febrile neutrophilic dermatosis ? assistant What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)
What are the treatments for Acute febrile neutrophilic dermatosis ?
How might acute febrile neutrophilic dermatosis be treated? Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. Doctors usually prescribe systemic corticosteroids (prednisone or prednisolone) to treat this condition. These oral anti-inflammatory medications reduce redness, itching, swelling and allergic reactions. In the pediatric population, long-term use of corticosteroids can cause problems with linear growth, blood pressure, and blood glucose levels. Children may also have social sequelae associated with their use. Therefore, attempts are usually made to treat children with steroid-sparing drugs. Other treatment options include indomethacin, colchicine, potassium iodide, dapsone, cyclosporine, etretinate, pentoxifylline, clofazimine, doxycycline, metronidazole, isotretinoin, methotrexate, cyclophosphamide, chlorambucil, and interferon alpha, all of which have shown some success in the resolution of symtpoms. With or without treatment, the lesions rarely leave a mark or scar when they eventually disappear. Even after the lesions have resolved, treatment may continue, as recurrence of the condition is common. If an underlying cause can be identified, it should be treated (i.e. resection of solid tumors, treatment of infections, and discontinuation of causative medication). Successful therapy of the underlying disorder may promote resolution of acute febrile neutrophilic dermatosis and prevent recurrences.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Acute febrile neutrophilic dermatosis ? assistant How might acute febrile neutrophilic dermatosis be treated? Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. Doctors usually prescribe systemic corticosteroids (prednisone or prednisolone) to treat this condition. These oral anti-inflammatory medications reduce redness, itching, swelling and allergic reactions. In the pediatric population, long-term use of corticosteroids can cause problems with linear growth, blood pressure, and blood glucose levels. Children may also have social sequelae associated with their use. Therefore, attempts are usually made to treat children with steroid-sparing drugs. Other treatment options include indomethacin, colchicine, potassium iodide, dapsone, cyclosporine, etretinate, pentoxifylline, clofazimine, doxycycline, metronidazole, isotretinoin, methotrexate, cyclophosphamide, chlorambucil, and interferon alpha, all of which have shown some success in the resolution of symtpoms. With or without treatment, the lesions rarely leave a mark or scar when they eventually disappear. Even after the lesions have resolved, treatment may continue, as recurrence of the condition is common. If an underlying cause can be identified, it should be treated (i.e. resection of solid tumors, treatment of infections, and discontinuation of causative medication). Successful therapy of the underlying disorder may promote resolution of acute febrile neutrophilic dermatosis and prevent recurrences.
What is (are) Hemochromatosis type 4 ?
Hemochromatosis type 4 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about these types click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hemochromatosis type 4 ? assistant Hemochromatosis type 4 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about these types click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
What are the symptoms of Hemochromatosis type 4 ?
What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis 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) Abnormality of iron homeostasis 90% Arthralgia 90% Generalized hyperpigmentation 90% Joint swelling 90% Limitation of joint mobility 90% Abdominal pain 50% Hepatic steatosis 50% Cirrhosis 7.5% Congenital hepatic fibrosis 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hemochromatosis type 4 ? assistant What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis 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) Abnormality of iron homeostasis 90% Arthralgia 90% Generalized hyperpigmentation 90% Joint swelling 90% Limitation of joint mobility 90% Abdominal pain 50% Hepatic steatosis 50% Cirrhosis 7.5% Congenital hepatic fibrosis 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.
What is (are) Blount disease ?
Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia) and requires treatment for improvement to occur. Treatment may involve bracing and/or surgery. Other causes for Blount disease in young children includes metabolic disease and rickets. Blount disease in teens typically occurs in youth who are overweight. In teens surgery is often required to correct the problem.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Blount disease ? assistant Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia) and requires treatment for improvement to occur. Treatment may involve bracing and/or surgery. Other causes for Blount disease in young children includes metabolic disease and rickets. Blount disease in teens typically occurs in youth who are overweight. In teens surgery is often required to correct the problem.
What are the symptoms of Blount disease ?
What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount 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) Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the proximal tibial epiphysis - Autosomal dominant inheritance - Genu varum - Osteochondrosis dissecans - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Blount disease ? assistant What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount 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) Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the proximal tibial epiphysis - Autosomal dominant inheritance - Genu varum - Osteochondrosis dissecans - 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.
What is (are) Wiedemann-Steiner syndrome ?
Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Wiedemann-Steiner syndrome ? assistant Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.
What are the symptoms of Wiedemann-Steiner syndrome ?
What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner 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) Constipation 5% Delayed skeletal maturation 5% Long eyelashes 5% Muscular hypotonia 5% Sacral dimple 5% Seizures 5% Tapered finger 5% Aggressive behavior - Blepharophimosis - Broad-based gait - Clinodactyly of the 5th finger - Delayed speech and language development - Epicanthus - Failure to thrive - Flat face - High palate - Hypertelorism - Intellectual disability - Long philtrum - Low-set ears - Short middle phalanx of finger - Short stature - Short toe - Strabismus - Synophrys - Thick eyebrow - Wide nose - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Wiedemann-Steiner syndrome ? assistant What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner 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) Constipation 5% Delayed skeletal maturation 5% Long eyelashes 5% Muscular hypotonia 5% Sacral dimple 5% Seizures 5% Tapered finger 5% Aggressive behavior - Blepharophimosis - Broad-based gait - Clinodactyly of the 5th finger - Delayed speech and language development - Epicanthus - Failure to thrive - Flat face - High palate - Hypertelorism - Intellectual disability - Long philtrum - Low-set ears - Short middle phalanx of finger - Short stature - Short toe - Strabismus - Synophrys - Thick eyebrow - Wide nose - 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.
What is (are) Syndrome of inappropriate antidiuretic hormone ?
Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid gland, kidneys, or adrenal glands, and the use of certain medications. Disorders of the lungs and certain cancers may increase the risk of developing SIADH. Treatment includes fluid restriction and sometimes the use of medications that decrease the effect of antidiuretic hormone on the kidneys.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Syndrome of inappropriate antidiuretic hormone ? assistant Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certain disorders of the heart, thyroid gland, kidneys, or adrenal glands, and the use of certain medications. Disorders of the lungs and certain cancers may increase the risk of developing SIADH. Treatment includes fluid restriction and sometimes the use of medications that decrease the effect of antidiuretic hormone on the kidneys.
What are the symptoms of Syndrome of inappropriate antidiuretic hormone ?
What are the signs and symptoms of Syndrome of inappropriate antidiuretic hormone? Symptoms of syndrome of inappropriate antidiuretic hormone include water retention and low sodium level. Low sodium levels may cause lethargy and confusion. Severe low levels of sodium in the body may cause muscle twitching, seizures, stupor, coma, and death. The Human Phenotype Ontology provides the following list of signs and symptoms for Syndrome of inappropriate antidiuretic hormone. 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) Decreased circulating renin level - Elevated systolic blood pressure - Hypernatriuria - Hyponatremia - Irritability - Seizures - X-linked recessive 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Syndrome of inappropriate antidiuretic hormone ? assistant What are the signs and symptoms of Syndrome of inappropriate antidiuretic hormone? Symptoms of syndrome of inappropriate antidiuretic hormone include water retention and low sodium level. Low sodium levels may cause lethargy and confusion. Severe low levels of sodium in the body may cause muscle twitching, seizures, stupor, coma, and death. The Human Phenotype Ontology provides the following list of signs and symptoms for Syndrome of inappropriate antidiuretic hormone. 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) Decreased circulating renin level - Elevated systolic blood pressure - Hypernatriuria - Hyponatremia - Irritability - Seizures - X-linked recessive 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.
What causes Syndrome of inappropriate antidiuretic hormone ?
What causes syndrome of inappropriate antidiuretic hormone? Many things can cause syndrome of inappropriate antidiuretic hormone (SIADH), including brain injury, brain infection, brain abscesses, subarachnoid hemorrhage, encephalitis, meningitis, Guillain-Barr syndrome, delirium tremens, multiple sclerosis, lung cancer, pancreatic cancer, thymoma, ovarian cancer, lymphoma, pneumonia, chronic obstructive pulmonary disease, lung abscess, tuberculosis, cystic fibrosis, surgery, and drugs. SIADH has also been reported in association with AIDS, temporal arteritis, polyarteritis nodosa, sarcoidosis, Rocky Mountain spotted fever, carcinoma of the cervix, olfactory neuroblastoma, and herpes zoster infection of the chest wall. Often the underlying cause of the condition can not be determined. In these cases the condition is said to be idiopathic.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Syndrome of inappropriate antidiuretic hormone ? assistant What causes syndrome of inappropriate antidiuretic hormone? Many things can cause syndrome of inappropriate antidiuretic hormone (SIADH), including brain injury, brain infection, brain abscesses, subarachnoid hemorrhage, encephalitis, meningitis, Guillain-Barr syndrome, delirium tremens, multiple sclerosis, lung cancer, pancreatic cancer, thymoma, ovarian cancer, lymphoma, pneumonia, chronic obstructive pulmonary disease, lung abscess, tuberculosis, cystic fibrosis, surgery, and drugs. SIADH has also been reported in association with AIDS, temporal arteritis, polyarteritis nodosa, sarcoidosis, Rocky Mountain spotted fever, carcinoma of the cervix, olfactory neuroblastoma, and herpes zoster infection of the chest wall. Often the underlying cause of the condition can not be determined. In these cases the condition is said to be idiopathic.
What are the treatments for Syndrome of inappropriate antidiuretic hormone ?
How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Syndrome of inappropriate antidiuretic hormone ? assistant How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.
What are the symptoms of Amelogenesis imperfecta local hypoplastic ?
What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. 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) Taurodontia 5% Amelogenesis imperfecta - Autosomal dominant inheritance - Generalized microdontia - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Amelogenesis imperfecta local hypoplastic ? assistant What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. 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) Taurodontia 5% Amelogenesis imperfecta - Autosomal dominant inheritance - Generalized microdontia - 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.
What are the symptoms of Maple syrup urine disease type 1A ?
What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. 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) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - Vomiting - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Maple syrup urine disease type 1A ? assistant What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. 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) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - Vomiting - 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.
What are the symptoms of Focal palmoplantar and gingival keratoderma ?
What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. 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 fingernails 90% Abnormality of the toenails 90% Gingival overgrowth 90% Palmoplantar keratoderma 90% Hyperhidrosis 50% Autosomal dominant inheritance - Circumungual hyperkeratosis - Focal friction-related palmoplantar hyperkeratosis - Gingival hyperkeratosis - Subungual hyperkeratosis - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Focal palmoplantar and gingival keratoderma ? assistant What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. 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 fingernails 90% Abnormality of the toenails 90% Gingival overgrowth 90% Palmoplantar keratoderma 90% Hyperhidrosis 50% Autosomal dominant inheritance - Circumungual hyperkeratosis - Focal friction-related palmoplantar hyperkeratosis - Gingival hyperkeratosis - Subungual hyperkeratosis - 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.
What is (are) Gray zone lymphoma ?
Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a "gray zone" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. Because features of gray zone lymphoma overlap with these two other types of lymphoma, diagnosing this condition can be difficult. Gray zone lymphoma is most often diagnosed in young adults when an unusual lump (mass) is found in the chest in the space between the lungs (mediastinum). This condition affects men and women equally.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Gray zone lymphoma ? assistant Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a "gray zone" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. Because features of gray zone lymphoma overlap with these two other types of lymphoma, diagnosing this condition can be difficult. Gray zone lymphoma is most often diagnosed in young adults when an unusual lump (mass) is found in the chest in the space between the lungs (mediastinum). This condition affects men and women equally.
What are the treatments for Gray zone lymphoma ?
How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are no guidelines for the best treatment of gray zone lymphoma; treatment is determined based on each individual's diagnosis. Treatment usually begins with chemotherapy, which may be followed by radiation therapy in some cases.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Gray zone lymphoma ? assistant How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are no guidelines for the best treatment of gray zone lymphoma; treatment is determined based on each individual's diagnosis. Treatment usually begins with chemotherapy, which may be followed by radiation therapy in some cases.
What is (are) Neuroacanthocytosis ?
Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Neuroacanthocytosis ? assistant Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).
What are the treatments for Neuroacanthocytosis ?
How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Neuroacanthocytosis ? assistant How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
What are the symptoms of 8p23.1 duplication syndrome ?
What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication 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 chromosome segregation 90% Cognitive impairment 50% Highly arched eyebrow 50% Neurological speech impairment 50% Abnormality of the nose 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the upper urinary tract 7.5% Deeply set eye 7.5% Exostoses 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Long philtrum 7.5% Primary adrenal insufficiency 7.5% Tetralogy of Fallot 7.5% Thick lower lip vermilion 7.5% Toe syndactyly 7.5% Ventricular septal defect 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of 8p23.1 duplication syndrome ? assistant What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication 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 chromosome segregation 90% Cognitive impairment 50% Highly arched eyebrow 50% Neurological speech impairment 50% Abnormality of the nose 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the upper urinary tract 7.5% Deeply set eye 7.5% Exostoses 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Long philtrum 7.5% Primary adrenal insufficiency 7.5% Tetralogy of Fallot 7.5% Thick lower lip vermilion 7.5% Toe syndactyly 7.5% Ventricular septal defect 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.
What is (are) Churg Strauss syndrome ?
Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of Churg Strauss syndrome is unknown, but it is thought to be an autoimmune disorder. Treatment may involve the use of glucocorticoids and/or other immunosuppressive therapies.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Churg Strauss syndrome ? assistant Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of Churg Strauss syndrome is unknown, but it is thought to be an autoimmune disorder. Treatment may involve the use of glucocorticoids and/or other immunosuppressive therapies.
What are the symptoms of Churg Strauss syndrome ?
What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. Some people do not develop all three phases. The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms. The eosinophilic phase is characterized by accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body - especially the lungs, gastrointestinal tract and skin. The vasculitic phase is characterized by widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm). People with CSS often develop nonspecific symptoms including fatigue, fever, weight loss, night sweats, abdominal pain, and/or joint and muscle pain. Neurological symptoms (such as pain, tingling or numbness) are common and depend on the specific nerves involved. About half of affected people develop skin abnormalities due to accumulation of eosinophils in skin tissue. Symptoms of skin involvement may include purplish skin lesions, a rash with hives, and/or small bumps, especially on the elbows. Gastrointestinal involvement may cause various symptoms also. Heart problems may include inflammation of heart tissues and in severe cases, heart failure. The kidneys can also become involved, eventually causing glomerulonephritis. The Human Phenotype Ontology provides the following list of signs and symptoms for Churg Strauss 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 eosinophils 90% Asthma 90% Autoimmunity 90% Congestive heart failure 90% Polyneuropathy 90% Pulmonary infiltrates 90% Sinusitis 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Weight loss 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hematuria 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Nausea and vomiting 50% Skin rash 50% Thrombophlebitis 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Acrocyanosis 7.5% Arthritis 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Cutis marmorata 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hemoptysis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Myalgia 7.5% Myositis 7.5% Nasal polyposis 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Renal insufficiency 7.5% Respiratory insufficiency 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Churg Strauss syndrome ? assistant What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. Some people do not develop all three phases. The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms. The eosinophilic phase is characterized by accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body - especially the lungs, gastrointestinal tract and skin. The vasculitic phase is characterized by widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm). People with CSS often develop nonspecific symptoms including fatigue, fever, weight loss, night sweats, abdominal pain, and/or joint and muscle pain. Neurological symptoms (such as pain, tingling or numbness) are common and depend on the specific nerves involved. About half of affected people develop skin abnormalities due to accumulation of eosinophils in skin tissue. Symptoms of skin involvement may include purplish skin lesions, a rash with hives, and/or small bumps, especially on the elbows. Gastrointestinal involvement may cause various symptoms also. Heart problems may include inflammation of heart tissues and in severe cases, heart failure. The kidneys can also become involved, eventually causing glomerulonephritis. The Human Phenotype Ontology provides the following list of signs and symptoms for Churg Strauss 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 eosinophils 90% Asthma 90% Autoimmunity 90% Congestive heart failure 90% Polyneuropathy 90% Pulmonary infiltrates 90% Sinusitis 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Weight loss 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hematuria 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Nausea and vomiting 50% Skin rash 50% Thrombophlebitis 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Acrocyanosis 7.5% Arthritis 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Cutis marmorata 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hemoptysis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Myalgia 7.5% Myositis 7.5% Nasal polyposis 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Renal insufficiency 7.5% Respiratory insufficiency 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.
What are the symptoms of Bone dysplasia lethal Holmgren type ?
What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren 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 the femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bone dysplasia lethal Holmgren type ? assistant What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren 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 the femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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.
What is (are) Hemochromatosis type 1 ?
Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about other types of hereditary hemochromatosis click on the disease names below: Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hemochromatosis type 1 ? assistant Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about other types of hereditary hemochromatosis click on the disease names below: Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
What are the symptoms of Hemochromatosis type 1 ?
What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hemochromatosis type 1 ? assistant What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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.
What are the treatments for Hemochromatosis type 1 ?
How might hemochromatosis type 1 be treated? Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complications of hemochromatosis, and maintain normal amounts of iron throughout the lifetime. Phlebotomy aids in ridding the body of excess iron and maintaining normal iron stores. Most people begin treatment with weekly therapeutic phlebotomy of 500 mL whole blood-although sometimes treatment is initially twice a week. Maintenance phlebotomy usually involves treatment every 2-3 weeks in which 1 unit of blood is removed. For more detailed information regarding the treatment of hemochromatosis, please reference Medscape at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/177216-treatment
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hemochromatosis type 1 ? assistant How might hemochromatosis type 1 be treated? Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complications of hemochromatosis, and maintain normal amounts of iron throughout the lifetime. Phlebotomy aids in ridding the body of excess iron and maintaining normal iron stores. Most people begin treatment with weekly therapeutic phlebotomy of 500 mL whole blood-although sometimes treatment is initially twice a week. Maintenance phlebotomy usually involves treatment every 2-3 weeks in which 1 unit of blood is removed. For more detailed information regarding the treatment of hemochromatosis, please reference Medscape at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/177216-treatment
What are the symptoms of Leber congenital amaurosis 5 ?
What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. 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 - Hypermetropia - Nystagmus - Undetectable electroretinogram - Visual impairment - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Leber congenital amaurosis 5 ? assistant What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. 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 - Hypermetropia - Nystagmus - Undetectable electroretinogram - Visual impairment - 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.
What is (are) Children's interstitial lung disease ?
Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs. Early diagnosis and treatment is important for any type of chILD. See the Children's Interstitial Lung Disease Foundation to see a list of different ILDs and to find more information about diagnosis, treatment and help finding a specialist.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Children's interstitial lung disease ? assistant Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs. Early diagnosis and treatment is important for any type of chILD. See the Children's Interstitial Lung Disease Foundation to see a list of different ILDs and to find more information about diagnosis, treatment and help finding a specialist.
What are the treatments for Children's interstitial lung disease ?
How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse. See the Children's Interstitial and Diffuse Lung Disease Foundation for more detailed information about treatment.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Children's interstitial lung disease ? assistant How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse. See the Children's Interstitial and Diffuse Lung Disease Foundation for more detailed information about treatment.
What are the symptoms of Spranger Schinzel Myers syndrome ?
What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers 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) Ablepharon - Absent eyelashes - Agenesis of corpus callosum - Autosomal recessive inheritance - Bifid uterus - Calcaneovalgus deformity - Camptodactyly - Cataract - Cerebellar hypoplasia - Choroid plexus cyst - Cleft palate - Cleft upper lip - Clinodactyly - Cryptorchidism - Dandy-Walker malformation - Decreased fetal movement - Finger syndactyly - Generalized edema - Hydranencephaly - Hypertelorism - Intrauterine growth retardation - Joint contracture of the hand - Lissencephaly - Macrotia - Microcephaly - Micromelia - Microphthalmia - Patent ductus arteriosus - Patent foramen ovale - Polyhydramnios - Proptosis - Pterygium - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Rocker bottom foot - Short neck - Short umbilical cord - Sloping forehead - Small placenta - Spina bifida - Stillbirth - Thick lower lip vermilion - Toe syndactyly - Transposition of the great arteries - Ventricular septal defect - Yellow subcutaneous tissue covered by thin, scaly skin - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spranger Schinzel Myers syndrome ? assistant What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers 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) Ablepharon - Absent eyelashes - Agenesis of corpus callosum - Autosomal recessive inheritance - Bifid uterus - Calcaneovalgus deformity - Camptodactyly - Cataract - Cerebellar hypoplasia - Choroid plexus cyst - Cleft palate - Cleft upper lip - Clinodactyly - Cryptorchidism - Dandy-Walker malformation - Decreased fetal movement - Finger syndactyly - Generalized edema - Hydranencephaly - Hypertelorism - Intrauterine growth retardation - Joint contracture of the hand - Lissencephaly - Macrotia - Microcephaly - Micromelia - Microphthalmia - Patent ductus arteriosus - Patent foramen ovale - Polyhydramnios - Proptosis - Pterygium - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Rocker bottom foot - Short neck - Short umbilical cord - Sloping forehead - Small placenta - Spina bifida - Stillbirth - Thick lower lip vermilion - Toe syndactyly - Transposition of the great arteries - Ventricular septal defect - Yellow subcutaneous tissue covered by thin, scaly skin - 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.
What is (are) Human T-cell leukemia virus type 2 ?
Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-2 and it is considered a lifelong condition; however, most infected people remain asymptomatic (show no symptoms) throughout life.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Human T-cell leukemia virus type 2 ? assistant Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-2 and it is considered a lifelong condition; however, most infected people remain asymptomatic (show no symptoms) throughout life.
What are the symptoms of Human T-cell leukemia virus type 2 ?
What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological problems such as:[7046] Sensory neuropathies (conditions that affect the nerves that provide feeling) Gait abnormalities Bladder dysfunction Mild cognitive impairment Motor abnormalities (loss of or limited muscle control or movement, or limited mobility) Erectile dysfunction Although evidence is limited, there may also be a link between HTLV-2 and chronic lung infections (i.e. pneumonia and bronchitis), arthritis, asthma, and dermatitis.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Human T-cell leukemia virus type 2 ? assistant What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological problems such as:[7046] Sensory neuropathies (conditions that affect the nerves that provide feeling) Gait abnormalities Bladder dysfunction Mild cognitive impairment Motor abnormalities (loss of or limited muscle control or movement, or limited mobility) Erectile dysfunction Although evidence is limited, there may also be a link between HTLV-2 and chronic lung infections (i.e. pneumonia and bronchitis), arthritis, asthma, and dermatitis.
What causes Human T-cell leukemia virus type 2 ?
What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-2 may develop neurological problems and other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Human T-cell leukemia virus type 2 ? assistant What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-2 may develop neurological problems and other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.
How to diagnose Human T-cell leukemia virus type 2 ?
How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-2-associated medical problems.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Human T-cell leukemia virus type 2 ? assistant How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-2-associated medical problems.
What are the treatments for Human T-cell leukemia virus type 2 ?
How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Human T-cell leukemia virus type 2 ? assistant How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.
What is (are) Parsonage Turner syndrome ?
Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Parsonage Turner syndrome ? assistant Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.
What are the symptoms of Parsonage Turner syndrome ?
What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Parsonage Turner syndrome ? assistant What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well.
What causes Parsonage Turner syndrome ?
What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above).
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Parsonage Turner syndrome ? assistant What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above).
Is Parsonage Turner syndrome inherited ?
Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic amyotrophy, please click here.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Parsonage Turner syndrome inherited ? assistant Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic amyotrophy, please click here.
How to diagnose Parsonage Turner syndrome ?
How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan) and/or an X-ray.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Parsonage Turner syndrome ? assistant How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan) and/or an X-ray.
What are the treatments for Parsonage Turner syndrome ?
How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Parsonage Turner syndrome ? assistant How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.
What is (are) Graves' disease ?
Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may occur at any age and may affect males as well. Treatment may include radioiodine therapy, antithyroid drugs, and/or thyroid surgery.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Graves' disease ? assistant Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may occur at any age and may affect males as well. Treatment may include radioiodine therapy, antithyroid drugs, and/or thyroid surgery.
What are the symptoms of Graves' disease ?
What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' 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) Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Congestive heart failure - Goiter - Graves disease - Hyperactivity - Hyperhidrosis - Hyperreflexia - Irritability - Muscle weakness - Onycholysis - Polyphagia - Pretibial myxedema - Proptosis - Weight loss - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Graves' disease ? assistant What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' 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) Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Congestive heart failure - Goiter - Graves disease - Hyperactivity - Hyperhidrosis - Hyperreflexia - Irritability - Muscle weakness - Onycholysis - Polyphagia - Pretibial myxedema - Proptosis - Weight loss - 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.
What are the symptoms of Osteopenia and sparse hair ?
What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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 hair quantity 90% Abnormal nasal morphology 90% Cognitive impairment 90% Frontal bossing 90% Hypertelorism 90% Increased bone mineral density 90% Macrocephaly 90% Malar flattening 90% Reduced bone mineral density 90% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Abnormality of the face - Autosomal recessive inheritance - Intellectual disability - Joint laxity - Muscular hypotonia - Osteopenia - Sparse hair - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Osteopenia and sparse hair ? assistant What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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 hair quantity 90% Abnormal nasal morphology 90% Cognitive impairment 90% Frontal bossing 90% Hypertelorism 90% Increased bone mineral density 90% Macrocephaly 90% Malar flattening 90% Reduced bone mineral density 90% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Abnormality of the face - Autosomal recessive inheritance - Intellectual disability - Joint laxity - Muscular hypotonia - Osteopenia - Sparse hair - 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.
What are the symptoms of Charlie M syndrome ?
What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M 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 fingernails 90% Abnormality of the toenails 90% Brachydactyly syndrome 90% Finger syndactyly 90% Hypertelorism 90% Narrow mouth 90% Non-midline cleft lip 90% Reduced number of teeth 90% Split hand 90% Thin vermilion border 90% Abnormality of the metacarpal bones 50% Abnormality of the nose 50% Short philtrum 50% Macrotia 7.5% Triphalangeal thumb 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Charlie M syndrome ? assistant What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M 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 fingernails 90% Abnormality of the toenails 90% Brachydactyly syndrome 90% Finger syndactyly 90% Hypertelorism 90% Narrow mouth 90% Non-midline cleft lip 90% Reduced number of teeth 90% Split hand 90% Thin vermilion border 90% Abnormality of the metacarpal bones 50% Abnormality of the nose 50% Short philtrum 50% Macrotia 7.5% Triphalangeal thumb 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.
What are the symptoms of Chromosome 8p23.1 deletion ?
What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Chromosome 8p23.1 deletion ? assistant What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 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.
What is (are) Polymicrogyria ?
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Polymicrogyria ? assistant Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person.
What is (are) Agenesis of the dorsal pancreas ?
Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions. Hyperglycemia has been shown to be present in approximately 50% of affected individuals. The cause of agenesis of the dorsal pancreas is currently not well understood. It may occur in individuals with no history of the condition in the family (sporadically) and in some cases, autosomal dominant or X-linked dominant inheritance has been suggested. It has also been reported to occur with very rare conditions including polysplenia and polysplenia/heterotaxy syndrome.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Agenesis of the dorsal pancreas ? assistant Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions. Hyperglycemia has been shown to be present in approximately 50% of affected individuals. The cause of agenesis of the dorsal pancreas is currently not well understood. It may occur in individuals with no history of the condition in the family (sporadically) and in some cases, autosomal dominant or X-linked dominant inheritance has been suggested. It has also been reported to occur with very rare conditions including polysplenia and polysplenia/heterotaxy syndrome.
What are the symptoms of Agenesis of the dorsal pancreas ?
What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. 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 pancreas 90% Intrauterine growth retardation 90% Maternal diabetes 90% Type I diabetes mellitus 90% Autosomal dominant inheritance - Diabetes mellitus - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Agenesis of the dorsal pancreas ? assistant What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. 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 pancreas 90% Intrauterine growth retardation 90% Maternal diabetes 90% Type I diabetes mellitus 90% Autosomal dominant inheritance - Diabetes mellitus - 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.
What causes Agenesis of the dorsal pancreas ?
What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may play a role in the development of this condition, but further research is needed to clarify this. There have been reports in the literature of the condition being associated (rarely) with other congenital diseases, specifically a very rare disorder called polysplenia/heterotaxy syndrome. In this case, it may occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac (heart) malformations.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Agenesis of the dorsal pancreas ? assistant What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may play a role in the development of this condition, but further research is needed to clarify this. There have been reports in the literature of the condition being associated (rarely) with other congenital diseases, specifically a very rare disorder called polysplenia/heterotaxy syndrome. In this case, it may occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac (heart) malformations.
What are the treatments for Agenesis of the dorsal pancreas ?
How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed. For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). Medical treatment is usually focused on relieving symptoms and preventing further aggravation to the pancreas. Certain complications of either acute pancreatitis or chronic pancreatitis may require surgery or a blood transfusion. In acute pancreatitis, the choice of treatment is based on the severity of the attack. Most people who are having an attack of acute pancreatitis are admitted to the hospital for oxygen (if having trouble breathing) and an intravenous (IV) line for medications and fluids. If needed, medications for pain and nausea may be prescribed. It may be recommended that no food or liquid is taken by mouth for a few days (this is called bowel rest). Some people may need a nasogastric (NG) tube to remove stomach juices which rests the intestine further, helping the pancreas recover. If the attack lasts longer than a few days, nutritional supplements may be administered through an IV line. In chronic pancreatitis, treatment focuses on relieving pain and avoiding further aggravation to the pancreas. Hyperglycemia (high blood sugar) management may depend on the exact cause if the condition in the affected individual. Management may include checking blood sugar levels with a blood glucose meter; checking urine for ketones; and adopting strategies to lower blood sugar level. Strategies might include exercise (only if urine ketones are not present); diet as discussed with a diabetes health educator or registered dietitian; and/or medication (especially if diet and exercise are not keeping blood sugar levels in the normal range) which may include insulin and/or other medications. Individuals seeking treatment options for themselves or others should speak with their health care provider about an individualized treatment plan; the information here is provided for general educational purposes only.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Agenesis of the dorsal pancreas ? assistant How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed. For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). Medical treatment is usually focused on relieving symptoms and preventing further aggravation to the pancreas. Certain complications of either acute pancreatitis or chronic pancreatitis may require surgery or a blood transfusion. In acute pancreatitis, the choice of treatment is based on the severity of the attack. Most people who are having an attack of acute pancreatitis are admitted to the hospital for oxygen (if having trouble breathing) and an intravenous (IV) line for medications and fluids. If needed, medications for pain and nausea may be prescribed. It may be recommended that no food or liquid is taken by mouth for a few days (this is called bowel rest). Some people may need a nasogastric (NG) tube to remove stomach juices which rests the intestine further, helping the pancreas recover. If the attack lasts longer than a few days, nutritional supplements may be administered through an IV line. In chronic pancreatitis, treatment focuses on relieving pain and avoiding further aggravation to the pancreas. Hyperglycemia (high blood sugar) management may depend on the exact cause if the condition in the affected individual. Management may include checking blood sugar levels with a blood glucose meter; checking urine for ketones; and adopting strategies to lower blood sugar level. Strategies might include exercise (only if urine ketones are not present); diet as discussed with a diabetes health educator or registered dietitian; and/or medication (especially if diet and exercise are not keeping blood sugar levels in the normal range) which may include insulin and/or other medications. Individuals seeking treatment options for themselves or others should speak with their health care provider about an individualized treatment plan; the information here is provided for general educational purposes only.
What is (are) Pseudoachondroplasia ?
Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pseudoachondroplasia ? assistant Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
What are the symptoms of Pseudoachondroplasia ?
What are the signs and symptoms of Pseudoachondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. 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 hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Micromelia 90% Arthralgia 50% Gait disturbance 50% Hyperlordosis 50% Joint hypermobility 50% Limitation of joint mobility 50% Osteoarthritis 50% Platyspondyly 50% Scoliosis 50% Short toe 50% Genu valgum 7.5% Genu varum 7.5% Hypoplasia of the odontoid process 7.5% Kyphosis 7.5% Atlantoaxial dislocation - Autosomal dominant inheritance - Beaking of vertebral bodies - Carpal bone hypoplasia - Cervical cord compression - Childhood onset short-limb short stature - Degenerative joint disease - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Flared femoral metaphysis - Fragmented epiphyses - Fragmented, irregular epiphyses - Genu recurvatum - Irregular carpal bones - Joint laxity - Ligamentous laxity - Limited elbow extension - Limited hip extension - Lumbar hyperlordosis - Radial metaphyseal irregularity - Sensory neuropathy - Short distal phalanx of finger - Short long bone - Short metacarpal - Small epiphyses of the phalanges of the hand - Spatulate ribs - Ulnar deviation of the hand - Ulnar deviation of the wrist - Ulnar metaphyseal irregularity - Waddling gait - 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. What are the features of pseudoachondroplasia? All individuals with pseudoachondroplasia have short stature. While affected individuals are typically of normal length at birth, their growth rate tends to fall below the standard growth curve by age two. The average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Other features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pseudoachondroplasia ? assistant What are the signs and symptoms of Pseudoachondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. 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 hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Micromelia 90% Arthralgia 50% Gait disturbance 50% Hyperlordosis 50% Joint hypermobility 50% Limitation of joint mobility 50% Osteoarthritis 50% Platyspondyly 50% Scoliosis 50% Short toe 50% Genu valgum 7.5% Genu varum 7.5% Hypoplasia of the odontoid process 7.5% Kyphosis 7.5% Atlantoaxial dislocation - Autosomal dominant inheritance - Beaking of vertebral bodies - Carpal bone hypoplasia - Cervical cord compression - Childhood onset short-limb short stature - Degenerative joint disease - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Flared femoral metaphysis - Fragmented epiphyses - Fragmented, irregular epiphyses - Genu recurvatum - Irregular carpal bones - Joint laxity - Ligamentous laxity - Limited elbow extension - Limited hip extension - Lumbar hyperlordosis - Radial metaphyseal irregularity - Sensory neuropathy - Short distal phalanx of finger - Short long bone - Short metacarpal - Small epiphyses of the phalanges of the hand - Spatulate ribs - Ulnar deviation of the hand - Ulnar deviation of the wrist - Ulnar metaphyseal irregularity - Waddling gait - 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. What are the features of pseudoachondroplasia? All individuals with pseudoachondroplasia have short stature. While affected individuals are typically of normal length at birth, their growth rate tends to fall below the standard growth curve by age two. The average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Other features of pseudoachondroplasia include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence.
Is Pseudoachondroplasia inherited ?
How is pseudoachondroplasia inherited? Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Pseudoachondroplasia inherited ? assistant How is pseudoachondroplasia inherited? Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ?
What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. 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 clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - Sparse scalp hair - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? assistant What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. 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 clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - Sparse scalp hair - 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.
What is (are) Complement component 2 deficiency ?
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Complement component 2 deficiency ? assistant Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.
What are the symptoms of Complement component 2 deficiency ?
What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 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) Autosomal recessive inheritance - Purpura - Systemic lupus erythematosus - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Complement component 2 deficiency ? assistant What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 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) Autosomal recessive inheritance - Purpura - Systemic lupus erythematosus - 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.
What is (are) CREST syndrome ?
CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease. (C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result. (R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene. (E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation. (S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss. (T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems. It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease. Some doctors believe only two of the five are necessary for a diagnosis.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) CREST syndrome ? assistant CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease. (C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result. (R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene. (E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation. (S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss. (T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems. It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease. Some doctors believe only two of the five are necessary for a diagnosis.
What are the symptoms of CREST syndrome ?
What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of CREST syndrome ? assistant What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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.
What causes CREST syndrome ?
What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes CREST syndrome ? assistant What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors.
How to diagnose CREST syndrome ?
How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupus and rheumatoid arthritis. A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies. Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either. Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose CREST syndrome ? assistant How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupus and rheumatoid arthritis. A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies. Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either. Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted.
What are the symptoms of NADH cytochrome B5 reductase deficiency ?
What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase 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) Autosomal recessive inheritance - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of NADH cytochrome B5 reductase deficiency ? assistant What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase 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) Autosomal recessive inheritance - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - 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.
What is (are) Glucose-6-phosphate dehydrogenase deficiency ?
Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene. Treatment may involve medicines to treat an infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Glucose-6-phosphate dehydrogenase deficiency ? assistant Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene. Treatment may involve medicines to treat an infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases.
What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ?
What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ? assistant What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.
What causes Glucose-6-phosphate dehydrogenase deficiency ?
What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Glucose-6-phosphate dehydrogenase deficiency ? assistant What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency.
Is Glucose-6-phosphate dehydrogenase deficiency inherited ?
How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of the gene in each cell is enough to cause the condition because they don't have another X chromosome with a normal copy of the gene. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Fathers cannot pass X-linked traits to their sons.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Glucose-6-phosphate dehydrogenase deficiency inherited ? assistant How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of the gene in each cell is enough to cause the condition because they don't have another X chromosome with a normal copy of the gene. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Fathers cannot pass X-linked traits to their sons.
What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ?
How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ? assistant How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses.
What are the symptoms of Amish lethal microcephaly ?
What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. 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) Aplasia/Hypoplasia of the cerebellum 90% Behavioral abnormality 90% Cognitive impairment 90% Microcephaly 90% Optic atrophy 90% Sloping forehead 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertonia 50% Muscular hypotonia 50% Reduced bone mineral density 50% Spina bifida 50% Ventriculomegaly 50% Abnormality of the soft palate 7.5% Decreased skull ossification 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Prenatal movement abnormality 7.5% Seizures 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Congenital onset - Flexion contracture - Irritability - Lactic acidosis - Limb hypertonia - Muscular hypotonia of the trunk - Partial agenesis of the corpus callosum - Progressive 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Amish lethal microcephaly ? assistant What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. 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) Aplasia/Hypoplasia of the cerebellum 90% Behavioral abnormality 90% Cognitive impairment 90% Microcephaly 90% Optic atrophy 90% Sloping forehead 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertonia 50% Muscular hypotonia 50% Reduced bone mineral density 50% Spina bifida 50% Ventriculomegaly 50% Abnormality of the soft palate 7.5% Decreased skull ossification 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Prenatal movement abnormality 7.5% Seizures 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Congenital onset - Flexion contracture - Irritability - Lactic acidosis - Limb hypertonia - Muscular hypotonia of the trunk - Partial agenesis of the corpus callosum - Progressive 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.
What are the symptoms of Paine syndrome ?
What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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) Generalized myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - X-linked 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Paine syndrome ? assistant What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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) Generalized myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - X-linked 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.
What are the symptoms of Thumb stiff brachydactyly mental retardation ?
What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. 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 metacarpal bones 90% Abnormality of the thumb 90% Cognitive impairment 90% Limitation of joint mobility 90% Obesity 50% Autosomal dominant inheritance - Intellectual disability - Type A1 brachydactyly - 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.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Thumb stiff brachydactyly mental retardation ? assistant What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. 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 metacarpal bones 90% Abnormality of the thumb 90% Cognitive impairment 90% Limitation of joint mobility 90% Obesity 50% Autosomal dominant inheritance - Intellectual disability - Type A1 brachydactyly - 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.
What is (are) Acanthoma ?
An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma". Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not known; it is sometimes called a benign tumor, and sometimes described as the result of inflammation. Acanthomas are not considered dangerous and do not require treatment, but they may be removed for cosmetic reasons or to relieve any associated symptoms.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Acanthoma ? assistant An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma". Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not known; it is sometimes called a benign tumor, and sometimes described as the result of inflammation. Acanthomas are not considered dangerous and do not require treatment, but they may be removed for cosmetic reasons or to relieve any associated symptoms.