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Is Microhydranencephaly inherited ?
Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Microhydranencephaly inherited ? assistant Is microhydranencephaly inherited? Most cases of microhydranencephaly occur sporadically in people with no family history of the condition. However, the condition can rarely affect more than one family member and be inherited in an autosomal recessive manner. In these cases, an affected person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
How to diagnose Microhydranencephaly ?
How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain).
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Microhydranencephaly ? assistant How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain).
What is (are) Gerstmann-Straussler-Scheinker disease ?
Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis. It is caused by changes (mutations) in the PRNP gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For information on other prion diseases, please visit GARD's Creutzfeldt-Jakob disease and fatal familial insomnia pages.
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) Gerstmann-Straussler-Scheinker disease ? assistant Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis. It is caused by changes (mutations) in the PRNP gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For information on other prion diseases, please visit GARD's Creutzfeldt-Jakob disease and fatal familial insomnia pages.
What are the symptoms of Gerstmann-Straussler-Scheinker disease ?
What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia Dysarthria (slurred speech) Nystagmus Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Lack of coordination in swallowing Deafness Parkinsonian features (present in some families) The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker 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) Adult onset - Aggressive behavior - Apraxia - Areflexia - Autosomal dominant inheritance - Bradykinesia - Cerebellar atrophy - Dementia - Depression - Dysarthria - Emotional lability - Gait ataxia - Hyperreflexia - Impaired smooth pursuit - Limb ataxia - Lower limb muscle weakness - Memory impairment - Myoclonus - Neurofibrillary tangles - Parkinsonism - Perseveration - Personality changes - Phenotypic variability - Psychosis - Rapidly progressive - Rigidity - Spasticity - Tremor - Truncal ataxia - 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 Gerstmann-Straussler-Scheinker disease ? assistant What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia Dysarthria (slurred speech) Nystagmus Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Lack of coordination in swallowing Deafness Parkinsonian features (present in some families) The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker 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) Adult onset - Aggressive behavior - Apraxia - Areflexia - Autosomal dominant inheritance - Bradykinesia - Cerebellar atrophy - Dementia - Depression - Dysarthria - Emotional lability - Gait ataxia - Hyperreflexia - Impaired smooth pursuit - Limb ataxia - Lower limb muscle weakness - Memory impairment - Myoclonus - Neurofibrillary tangles - Parkinsonism - Perseveration - Personality changes - Phenotypic variability - Psychosis - Rapidly progressive - Rigidity - Spasticity - Tremor - Truncal ataxia - 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 causes Gerstmann-Straussler-Scheinker disease ?
What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. This loss of brain cells leads to the signs and symptoms of GSS.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Gerstmann-Straussler-Scheinker disease ? assistant What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. This loss of brain cells leads to the signs and symptoms of GSS.
Is Gerstmann-Straussler-Scheinker disease inherited ?
How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GSS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Gerstmann-Straussler-Scheinker disease inherited ? assistant How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GSS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Gerstmann-Straussler-Scheinker disease ?
How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease) A family history consistent with autosomal dominant inheritance Identification of a disease-causing mutation of the PRNP gene Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Gerstmann-Straussler-Scheinker disease ? assistant How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease) A family history consistent with autosomal dominant inheritance Identification of a disease-causing mutation of the PRNP gene Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.
What are the treatments for Gerstmann-Straussler-Scheinker disease ?
How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Gerstmann-Straussler-Scheinker disease ? assistant How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource.
What is (are) Fitz-Hugh-Curtis syndrome ?
Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge - are often present as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PID progresses to FHCS in some women. Fitz-Hugh-Curtis syndrome is treated with antibiotics.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Fitz-Hugh-Curtis syndrome ? assistant Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge - are often present as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PID progresses to FHCS in some women. Fitz-Hugh-Curtis syndrome is treated with antibiotics.
What are the treatments for Fitz-Hugh-Curtis syndrome ?
How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Fitz-Hugh-Curtis syndrome ? assistant How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS.
What is (are) Psoriatic juvenile idiopathic arthritis ?
Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Psoriatic juvenile idiopathic arthritis ? assistant Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
What are the symptoms of Diffuse mesangial sclerosis ?
What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. 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) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - 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 Diffuse mesangial sclerosis ? assistant What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. 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) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - 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 Renal hypouricemia ?
What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. 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) Acute kidney injury - Autosomal recessive inheritance - Hypouricemia - Increased urinary urate - Uric acid nephrolithiasis - 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 Renal hypouricemia ? assistant What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. 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) Acute kidney injury - Autosomal recessive inheritance - Hypouricemia - Increased urinary urate - Uric acid nephrolithiasis - 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 Lipase deficiency combined ?
What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. 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 - Autosomal 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 Lipase deficiency combined ? assistant What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. 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 - Autosomal 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 Keratolytic winter erythema ?
What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. 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) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - 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 Keratolytic winter erythema ? assistant What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. 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) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - 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 Frontotemporal dementia, ubiquitin-positive ?
What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. 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) Agitation - Apathy - Aphasia - Apraxia - Autosomal dominant inheritance - Cerebral cortical atrophy - Dilation of lateral ventricles - Disinhibition - Dysphasia - Frontotemporal dementia - Gliosis - Hallucinations - Hyperorality - Hypersexuality - Memory impairment - Mutism - Neuronal loss in central nervous system - Parkinsonism - Perseveration - Personality changes - Polyphagia - Progressive language deterioration - Repetitive compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Frontotemporal dementia, ubiquitin-positive ? assistant What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. 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) Agitation - Apathy - Aphasia - Apraxia - Autosomal dominant inheritance - Cerebral cortical atrophy - Dilation of lateral ventricles - Disinhibition - Dysphasia - Frontotemporal dementia - Gliosis - Hallucinations - Hyperorality - Hypersexuality - Memory impairment - Mutism - Neuronal loss in central nervous system - Parkinsonism - Perseveration - Personality changes - Polyphagia - Progressive language deterioration - Repetitive compulsive behavior - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Glucocorticoid-remediable aldosteronism ?
Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Glucocorticoid-remediable aldosteronism ? assistant Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.
What are the symptoms of Glucocorticoid-remediable aldosteronism ?
What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Onset - 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 Glucocorticoid-remediable aldosteronism ? assistant What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Onset - 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) Hypopituitarism ?
Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin). These hormones are important for directing body growth and development, and for regulating blood pressure and metabolism. Symptoms of this condition vary and depend on which hormones are affected. Treatment depends on the cause of this condition; once the cause is corrected, medication (hormone replacement therapy) must be taken to provide the body with the normal amount of hormones.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hypopituitarism ? assistant Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin). These hormones are important for directing body growth and development, and for regulating blood pressure and metabolism. Symptoms of this condition vary and depend on which hormones are affected. Treatment depends on the cause of this condition; once the cause is corrected, medication (hormone replacement therapy) must be taken to provide the body with the normal amount of hormones.
What is (are) Lamellar ichthyosis ?
Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. 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) Lamellar ichthyosis ? assistant Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Lamellar ichthyosis ?
What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. 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 eyelid 90% Abnormality of the nail 90% Aplasia/Hypoplasia of the eyebrow 90% Dry skin 90% Hyperkeratosis 90% Ichthyosis 90% Lack of skin elasticity 90% Pruritus 90% Abnormality of the helix 50% Abnormality of the teeth 7.5% Cognitive impairment 7.5% Dehydration 7.5% Gangrene 7.5% Otitis media 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Sepsis 7.5% Short stature 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 Lamellar ichthyosis ? assistant What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. 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 eyelid 90% Abnormality of the nail 90% Aplasia/Hypoplasia of the eyebrow 90% Dry skin 90% Hyperkeratosis 90% Ichthyosis 90% Lack of skin elasticity 90% Pruritus 90% Abnormality of the helix 50% Abnormality of the teeth 7.5% Cognitive impairment 7.5% Dehydration 7.5% Gangrene 7.5% Otitis media 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Sepsis 7.5% Short stature 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 treatments for Lamellar ichthyosis ?
How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated. As affected children become older, treatments to promote peeling and thinning of the stratum corneum (the outermost layer of skin cells) are often recommended. This may include humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations. For people with ectropion (turning out of the eyelid), lubrication of the cornea with artificial tears or prescription ointments is helpful to prevent the cornea from drying out. Topical or oral retinoid therapy may be recommended for those with severe skin involvement; however, these medications can be associated with undesired side effects and are, therefore, generally prescribed with caution.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Lamellar ichthyosis ? assistant How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated. As affected children become older, treatments to promote peeling and thinning of the stratum corneum (the outermost layer of skin cells) are often recommended. This may include humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations. For people with ectropion (turning out of the eyelid), lubrication of the cornea with artificial tears or prescription ointments is helpful to prevent the cornea from drying out. Topical or oral retinoid therapy may be recommended for those with severe skin involvement; however, these medications can be associated with undesired side effects and are, therefore, generally prescribed with caution.
What are the symptoms of Neutrophil-specific granule deficiency ?
What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule 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) Absent neutrophil specific granules - Autosomal recessive inheritance - Hyposegmentation of neutrophil nuclei - Recurrent infections - 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 Neutrophil-specific granule deficiency ? assistant What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule 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) Absent neutrophil specific granules - Autosomal recessive inheritance - Hyposegmentation of neutrophil nuclei - Recurrent infections - 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) Pectus carinatum ?
Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pectus carinatum ? assistant Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.
What is (are) Charcot-Marie-Tooth disease type 2F ?
Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Charcot-Marie-Tooth disease type 2F ? assistant Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
What are the symptoms of Charcot-Marie-Tooth disease type 2F ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The most common first symptom is weakness of the feet and ankles, followed by slowly progressive weakness and atrophy of distal muscles in the feet and/or hands. Individuals often have decreased tendon reflexes and mild or no sensory loss. Adults with CMT2 often have bilateral foot drop, symmetric atrophy of muscles below the knee (stork leg appearance) and absent tendon reflexes in the legs. Mild sensory deficits of position, vibration, pain or temperature may occur in the feet, or sensation may be intact. Pain (especially in the feet) is reported by about 20%-40% of affected individuals. Other features that may be associated with CMT2 in a few individuals include hearing impairment; vocal cord or phrenic nerve involvement (which may result in difficulty with speech or breathing); restless legs; and sleep apnea. CMT2 is progressive over many years, but affected individuals often experience long periods without obvious progression. In some individuals, the condition may be so mild that it goes unrecognized. Affected individuals have a normal life span. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Fasciculations - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Pes cavus - Steppage gait - Ulnar claw - 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 Charcot-Marie-Tooth disease type 2F ? assistant What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The most common first symptom is weakness of the feet and ankles, followed by slowly progressive weakness and atrophy of distal muscles in the feet and/or hands. Individuals often have decreased tendon reflexes and mild or no sensory loss. Adults with CMT2 often have bilateral foot drop, symmetric atrophy of muscles below the knee (stork leg appearance) and absent tendon reflexes in the legs. Mild sensory deficits of position, vibration, pain or temperature may occur in the feet, or sensation may be intact. Pain (especially in the feet) is reported by about 20%-40% of affected individuals. Other features that may be associated with CMT2 in a few individuals include hearing impairment; vocal cord or phrenic nerve involvement (which may result in difficulty with speech or breathing); restless legs; and sleep apnea. CMT2 is progressive over many years, but affected individuals often experience long periods without obvious progression. In some individuals, the condition may be so mild that it goes unrecognized. Affected individuals have a normal life span. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Fasciculations - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Pes cavus - Steppage gait - Ulnar claw - 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 Charcot-Marie-Tooth disease type 2F ?
What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Charcot-Marie-Tooth disease type 2F ? assistant What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.
Is Charcot-Marie-Tooth disease type 2F inherited ?
How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Charcot-Marie-Tooth disease type 2F inherited ? assistant How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.
How to diagnose Charcot-Marie-Tooth disease type 2F ?
Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
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 Charcot-Marie-Tooth disease type 2F ? assistant Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
What are the treatments for Charcot-Marie-Tooth disease type 2F ?
How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. Depending on the individual's signs and symptoms, the following may be indicated: Special shoes, including those with good ankle support Ankle/foot orthoses (AFO) to correct foot drop and aid with walking Orthopedic surgery to correct severe pes cavus Forearm crutches or canes for stability (fewer than 5% of affected individuals need wheelchairs) Treatment of sleep apnea or restless legs Treatment of pain and depression as needed
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Charcot-Marie-Tooth disease type 2F ? assistant How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. Depending on the individual's signs and symptoms, the following may be indicated: Special shoes, including those with good ankle support Ankle/foot orthoses (AFO) to correct foot drop and aid with walking Orthopedic surgery to correct severe pes cavus Forearm crutches or canes for stability (fewer than 5% of affected individuals need wheelchairs) Treatment of sleep apnea or restless legs Treatment of pain and depression as needed
What is (are) Adiposis dolorosa ?
Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but it can also occur in men. Adiposa dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. Treatment may include weight reduction; surgical removal or liposuction of lipomas; and pain management.
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) Adiposis dolorosa ? assistant Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but it can also occur in men. Adiposa dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. Treatment may include weight reduction; surgical removal or liposuction of lipomas; and pain management.
What are the symptoms of Adiposis dolorosa ?
What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures). The lipomas may occur anywhere in the body except the face and neck. The most common sites are the knees, upper thighs, back and upper arms. They may cause joint pain (arthralgia) when they are near the joints. Pain associated with the lipomas can be debilitating; it usually worsens with movement or an increase in body weight. Sparse pubic hair and underarm hair have been reported in some affected people. The condition can also be associated with early congestive heart failure, severe hypothyroidism, joint pain, flushing episodes, tremors, cyanosis, high blood pressure, headaches, and nosebleeds. The Human Phenotype Ontology provides the following list of signs and symptoms for Adiposis dolorosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Obesity 90% Abnormal hair quantity 50% Arthritis 7.5% Autoimmunity 7.5% Bruising susceptibility 7.5% Constipation 7.5% Developmental regression 7.5% Diarrhea 7.5% Dry skin 7.5% Hypothyroidism 7.5% Keratoconjunctivitis sicca 7.5% Memory impairment 7.5% Migraine 7.5% Paresthesia 7.5% Seizures 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Xerostomia 7.5% Anxiety - Autosomal dominant inheritance - Chronic pain - Fatigue - Middle age onset - Painful subcutaneous lipomas - 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 Adiposis dolorosa ? assistant What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures). The lipomas may occur anywhere in the body except the face and neck. The most common sites are the knees, upper thighs, back and upper arms. They may cause joint pain (arthralgia) when they are near the joints. Pain associated with the lipomas can be debilitating; it usually worsens with movement or an increase in body weight. Sparse pubic hair and underarm hair have been reported in some affected people. The condition can also be associated with early congestive heart failure, severe hypothyroidism, joint pain, flushing episodes, tremors, cyanosis, high blood pressure, headaches, and nosebleeds. The Human Phenotype Ontology provides the following list of signs and symptoms for Adiposis dolorosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Obesity 90% Abnormal hair quantity 50% Arthritis 7.5% Autoimmunity 7.5% Bruising susceptibility 7.5% Constipation 7.5% Developmental regression 7.5% Diarrhea 7.5% Dry skin 7.5% Hypothyroidism 7.5% Keratoconjunctivitis sicca 7.5% Memory impairment 7.5% Migraine 7.5% Paresthesia 7.5% Seizures 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Xerostomia 7.5% Anxiety - Autosomal dominant inheritance - Chronic pain - Fatigue - Middle age onset - Painful subcutaneous lipomas - 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 Adiposis dolorosa ?
What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder. Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Adiposis dolorosa ? assistant What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder. Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.
Is Adiposis dolorosa inherited ?
Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner. In these cases, when an affected person has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, no associated genes have been identified.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Adiposis dolorosa inherited ? assistant Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner. In these cases, when an affected person has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, no associated genes have been identified.
How to diagnose Adiposis dolorosa ?
Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with the condition have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Adiposis dolorosa ? assistant Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with the condition have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition.
What are the treatments for Adiposis dolorosa ?
How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Adiposis dolorosa ? assistant How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.
What is (are) Axial spondylometaphyseal dysplasia ?
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be 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) Axial spondylometaphyseal dysplasia ? assistant Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.
What are the symptoms of Axial spondylometaphyseal dysplasia ?
What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demonstrate growth failure by late infancy to early childhood. A measurement called standard deviation (SD) is used to compare the height of different children. If a child's height is more than 2 SD's below the average height of other children the same age, the child is said to have short stature. This means that almost all of the other children that age (more than 95% or 19 out of 20) are taller. Individual case reports of children and an adult with axial spondlometaphyseal dysplasia demonstrate height as being between 2 to 6 SDs below average. Infants with axial spondlometaphyseal dysplasia tend to have a shortened chest with short ribs, a condition called thoracic hypoplasia. Thoracic hypoplasia tends to become more prominent in childhood, and less noticeable in adolescence and adulthood. Thoracic hypoplasia may cause mild to moderate breathing problems in infants and recurring lung infections in childhood. Young children with axial spondlometaphyseal dysplasia have shortened upper arms and upper leg bones, which may become less prominent as they grow. Spine changes include vertebrae that have a flattened appearance on x-ray. This finding is typically mild in infancy and early childhood, becomes more apparent in late childhood, then self-corrects by adulthood. Some individuals with axial spondylometaphyseal dysplasia develop scoliosis (curvature of the spine). Pelvic bone changes can be seen in infants and children. Some of these changes self-correct by adulthood. A condition called coxa vara (where the angle between the top of the femur and the femoral shaft is smaller than normal) is common beginning in late childhood and persists through adulthood. Coxa vara may affect gait (pattern or way of walking). Some people with axial spondlometaphyseal dysplasia have minor bone changes in their knees. Vision problems, including retinitis pigmentosa and/or optic atrophy, become evident in infancy or early childhood and rapidly worsen. Retinitis pigmentosa causes cells in the retina to breakdown and die, eventually resulting in vision loss. Optic atrophy causes vision to dim and reduces the field of vision. It also reduces the ability to see fine detail and color (ie., colors will seem faded). With the progression of optic atrophy, a person's pupil reaction to light diminishes and may eventually be lost. Long term outlook for vision for people with axial spondylometaphyseal dysplasia is poor. The Human Phenotype Ontology provides the following list of signs and symptoms for Axial spondylometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed skeletal maturation 90% Limb undergrowth 90% Platyspondyly 90% Short stature 90% Visual impairment 90% Abnormality of the hip bone 50% Enlarged thorax 50% Frontal bossing 50% Optic atrophy 50% Anteverted nares 7.5% Astigmatism 7.5% Hypertelorism 7.5% Photophobia 7.5% Proptosis 7.5% Short nose 7.5% Telecanthus 7.5% Anterior rib cupping - Autosomal recessive inheritance - Coxa vara - Narrow greater sacrosciatic notches - Nystagmus - Proximal femoral metaphyseal irregularity - Recurrent pneumonia - Rod-cone dystrophy - Short femoral neck - Spondylometaphyseal dysplasia - Thoracic hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Axial spondylometaphyseal dysplasia ? assistant What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demonstrate growth failure by late infancy to early childhood. A measurement called standard deviation (SD) is used to compare the height of different children. If a child's height is more than 2 SD's below the average height of other children the same age, the child is said to have short stature. This means that almost all of the other children that age (more than 95% or 19 out of 20) are taller. Individual case reports of children and an adult with axial spondlometaphyseal dysplasia demonstrate height as being between 2 to 6 SDs below average. Infants with axial spondlometaphyseal dysplasia tend to have a shortened chest with short ribs, a condition called thoracic hypoplasia. Thoracic hypoplasia tends to become more prominent in childhood, and less noticeable in adolescence and adulthood. Thoracic hypoplasia may cause mild to moderate breathing problems in infants and recurring lung infections in childhood. Young children with axial spondlometaphyseal dysplasia have shortened upper arms and upper leg bones, which may become less prominent as they grow. Spine changes include vertebrae that have a flattened appearance on x-ray. This finding is typically mild in infancy and early childhood, becomes more apparent in late childhood, then self-corrects by adulthood. Some individuals with axial spondylometaphyseal dysplasia develop scoliosis (curvature of the spine). Pelvic bone changes can be seen in infants and children. Some of these changes self-correct by adulthood. A condition called coxa vara (where the angle between the top of the femur and the femoral shaft is smaller than normal) is common beginning in late childhood and persists through adulthood. Coxa vara may affect gait (pattern or way of walking). Some people with axial spondlometaphyseal dysplasia have minor bone changes in their knees. Vision problems, including retinitis pigmentosa and/or optic atrophy, become evident in infancy or early childhood and rapidly worsen. Retinitis pigmentosa causes cells in the retina to breakdown and die, eventually resulting in vision loss. Optic atrophy causes vision to dim and reduces the field of vision. It also reduces the ability to see fine detail and color (ie., colors will seem faded). With the progression of optic atrophy, a person's pupil reaction to light diminishes and may eventually be lost. Long term outlook for vision for people with axial spondylometaphyseal dysplasia is poor. The Human Phenotype Ontology provides the following list of signs and symptoms for Axial spondylometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed skeletal maturation 90% Limb undergrowth 90% Platyspondyly 90% Short stature 90% Visual impairment 90% Abnormality of the hip bone 50% Enlarged thorax 50% Frontal bossing 50% Optic atrophy 50% Anteverted nares 7.5% Astigmatism 7.5% Hypertelorism 7.5% Photophobia 7.5% Proptosis 7.5% Short nose 7.5% Telecanthus 7.5% Anterior rib cupping - Autosomal recessive inheritance - Coxa vara - Narrow greater sacrosciatic notches - Nystagmus - Proximal femoral metaphyseal irregularity - Recurrent pneumonia - Rod-cone dystrophy - Short femoral neck - Spondylometaphyseal dysplasia - Thoracic hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the treatments for Axial spondylometaphyseal dysplasia ?
How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy. Further medical support resources can be found through the Little People of America, Inc.
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 Axial spondylometaphyseal dysplasia ? assistant How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution. The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy. Further medical support resources can be found through the Little People of America, Inc.
What is (are) Thoracic outlet syndrome ?
Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Thoracic outlet syndrome ? assistant Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures.
What are the symptoms of Thoracic outlet syndrome ?
What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet 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) Paresthesia 90% Abnormality of the ribs 50% Acrocyanosis 50% Arthralgia 50% Edema 50% Muscle weakness 50% Myalgia 50% EMG abnormality 7.5% Flexion contracture 7.5% Thrombophlebitis 7.5% Venous 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 Thoracic outlet syndrome ? assistant What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet 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) Paresthesia 90% Abnormality of the ribs 50% Acrocyanosis 50% Arthralgia 50% Edema 50% Muscle weakness 50% Myalgia 50% EMG abnormality 7.5% Flexion contracture 7.5% Thrombophlebitis 7.5% Venous 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.
Is Thoracic outlet syndrome inherited ?
Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance. While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Thoracic outlet syndrome inherited ? assistant Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance. While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/
How to diagnose Thoracic outlet syndrome ?
How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Thoracic outlet syndrome ? assistant How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult.
What is (are) Chronic active Epstein-Barr virus infection ?
Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis. Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Chronic active Epstein-Barr virus infection ? assistant Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr virus (EBV). Most infections occur during childhood and do not cause any symptoms. EBV infection in adolescents or young adults can often result in infectious mononucleosis. Rarely, people infected with EBV develop a life-threatening condition called chronic active EBV virus (CAEBV). Patients with CAEBV most often have fever, liver dysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia). Hematopoietic stem cell transplantation has shown promise in the treatment of CAEBV.
What are the symptoms of Chronic active Epstein-Barr virus infection ?
What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. 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 - Bronchiectasis - Fever - Pneumonia - Sinusitis - Splenomegaly - 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 Chronic active Epstein-Barr virus infection ? assistant What are the signs and symptoms of Chronic active Epstein-Barr virus infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic active Epstein-Barr virus infection. 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 - Bronchiectasis - Fever - Pneumonia - Sinusitis - Splenomegaly - 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 Optic atrophy 1 and deafness ?
What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. 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 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - 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 Optic atrophy 1 and deafness ? assistant What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. 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 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - 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) Potocki-Shaffer syndrome ?
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Potocki-Shaffer syndrome ? assistant Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.
What are the symptoms of Potocki-Shaffer syndrome ?
What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal foramina Multiple exostoses Intellectual disability Developmental delay Failure to thrive Autism Behavioral problems Deafness Myopia (nearsightedness) Nystagmus Cataract Strabismus Aniridia Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible) Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn. The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Potocki-Shaffer syndrome ? assistant What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present: Enlarged parietal foramina Multiple exostoses Intellectual disability Developmental delay Failure to thrive Autism Behavioral problems Deafness Myopia (nearsightedness) Nystagmus Cataract Strabismus Aniridia Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible) Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn. The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the treatments for Potocki-Shaffer syndrome ?
How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region; Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay. Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Potocki-Shaffer syndrome ? assistant How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region; Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay. Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.
What are the symptoms of Charcot-Marie-Tooth disease type 1B ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. 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) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Charcot-Marie-Tooth disease type 1B ? assistant What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. 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) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Taurodontia absent teeth sparse hair ?
What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth 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% Reduced number of teeth 90% Taurodontia 90% Abnormality of the fingernails 50% Broad alveolar ridges 50% Hypoplastic toenails 50% Autosomal recessive inheritance - Oligodontia - 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 Taurodontia absent teeth sparse hair ? assistant What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth 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% Reduced number of teeth 90% Taurodontia 90% Abnormality of the fingernails 50% Broad alveolar ridges 50% Hypoplastic toenails 50% Autosomal recessive inheritance - Oligodontia - 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 Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ?
What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. 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 - Generalized ichthyosis - Intellectual disability - 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 Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ? assistant What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. 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 - Generalized ichthyosis - Intellectual disability - 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 levocardia ?
Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects (absent, underdeveloped, or extra spleen), and intestinal malrotation. Long term outlook varies depending on the presence/absence of associated abnormalities, particularly heart defects. The cause of isolated levocardia is not known. It is not usually associated with chromosome abnormalities.[7363]
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Isolated levocardia ? assistant Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects (absent, underdeveloped, or extra spleen), and intestinal malrotation. Long term outlook varies depending on the presence/absence of associated abnormalities, particularly heart defects. The cause of isolated levocardia is not known. It is not usually associated with chromosome abnormalities.[7363]
How to diagnose Isolated levocardia ?
Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal organs and major blood vessels. In addition, a careful assessment of the spleen in the newborn is important. People with spleen dysfunction are at an increased risk for serious infection and benefit from prophylactic life-long antibiotics and vaccination. Barium contrast screening has been used for early detection of intestinal malrotation and to guide treatment. Also, long-term, infrequent follow-up of infants and adults with isoalted levocardia to monitor for heart rhythm problems is recommended.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Isolated levocardia ? assistant Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal organs and major blood vessels. In addition, a careful assessment of the spleen in the newborn is important. People with spleen dysfunction are at an increased risk for serious infection and benefit from prophylactic life-long antibiotics and vaccination. Barium contrast screening has been used for early detection of intestinal malrotation and to guide treatment. Also, long-term, infrequent follow-up of infants and adults with isoalted levocardia to monitor for heart rhythm problems is recommended.
What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ?
What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. 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 of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - 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 Chondrodysplasia acromesomelic with genital anomalies ? assistant What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. 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 of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - 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 Pitt-Hopkins-like syndrome ?
What are the signs and symptoms of Pitt-Hopkins-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pitt-Hopkins-like 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) Epileptic encephalopathy 75% Broad-based gait 5% Autosomal recessive inheritance - Constipation - Drooling - Feeding difficulties - Gastroesophageal reflux - Hyperventilation - Intellectual disability, severe - Muscular hypotonia - Protruding tongue - Pulmonic stenosis - Scoliosis - Strabismus - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pitt-Hopkins-like syndrome ? assistant What are the signs and symptoms of Pitt-Hopkins-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pitt-Hopkins-like 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) Epileptic encephalopathy 75% Broad-based gait 5% Autosomal recessive inheritance - Constipation - Drooling - Feeding difficulties - Gastroesophageal reflux - Hyperventilation - Intellectual disability, severe - Muscular hypotonia - Protruding tongue - Pulmonic stenosis - Scoliosis - Strabismus - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Coats disease ?
Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. In most cases, only one eye is affected (unilateral). The exact underlying cause is not known but some cases may be due to somatic mutations in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Coats disease ? assistant Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. In most cases, only one eye is affected (unilateral). The exact underlying cause is not known but some cases may be due to somatic mutations in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery.
What are the symptoms of Coats disease ?
What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with periods of no apparent progression are common. Early signs and symptoms may include loss of vision, crossed eyes (strabismus), and/or the development of a white mass in the pupil behind the lens of the eye (leukocoria). As the disease progresses, affected people may develop glaucoma; cataracts; reddish discoloration in the iris (rubeosis iridis or neovascular glaucoma); shrinking of the affected eyeball (phthisis bulbi); and/or swelling and irritation of the middle layer of the eye (uveitis). The majority of affected people eventually experience profound vision loss and retinal detachment. The Human Phenotype Ontology provides the following list of signs and symptoms for Coats 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 retinal vasculature 90% Strabismus 90% Abnormality of the macula 50% Glaucoma 50% Retinal detachment 50% Abnormality of the anterior chamber 7.5% Aplasia/Hypoplasia of the iris 7.5% Cataract 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 Coats disease ? assistant What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with periods of no apparent progression are common. Early signs and symptoms may include loss of vision, crossed eyes (strabismus), and/or the development of a white mass in the pupil behind the lens of the eye (leukocoria). As the disease progresses, affected people may develop glaucoma; cataracts; reddish discoloration in the iris (rubeosis iridis or neovascular glaucoma); shrinking of the affected eyeball (phthisis bulbi); and/or swelling and irritation of the middle layer of the eye (uveitis). The majority of affected people eventually experience profound vision loss and retinal detachment. The Human Phenotype Ontology provides the following list of signs and symptoms for Coats 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 retinal vasculature 90% Strabismus 90% Abnormality of the macula 50% Glaucoma 50% Retinal detachment 50% Abnormality of the anterior chamber 7.5% Aplasia/Hypoplasia of the iris 7.5% Cataract 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 causes Coats disease ?
What causes Coats disease? The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina. A somatic mutation in this case is one that is acquired after conception (i.e. it was not inherited from a parent and cannot be passed on to an affected person's children).
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Coats disease ? assistant What causes Coats disease? The exact cause of Coats disease is not currently known. However, it is a reported feature of several different genetic syndromes, suggesting there may be a genetic component.[4716] Researchers believe that some cases of Coats disease may be due to somatic mutations in the NDP gene, which lead to deficient levels of a protein called norrin in the developing retina. A somatic mutation in this case is one that is acquired after conception (i.e. it was not inherited from a parent and cannot be passed on to an affected person's children).
Is Coats disease inherited ?
How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in people with Senior-Loken syndrome and is a key symptom of a condition called Coats plus syndrome, which is characterized by Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Both of these conditions are inherited in an autosomal recessive manner.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Coats disease inherited ? assistant How is Coats disease inherited? In most cases, Coats disease is not inherited. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in people with Senior-Loken syndrome and is a key symptom of a condition called Coats plus syndrome, which is characterized by Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Both of these conditions are inherited in an autosomal recessive manner.
How to diagnose Coats disease ?
Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Coats disease ? assistant Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.
What are the treatments for Coats disease ?
How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Coats disease ? assistant How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.
What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? assistant Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.
What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 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) Stroke 5% Autosomal dominant inheritance - Cerebral aneurysm - Hematuria - Leukoencephalopathy - Muscle cramps - Nephropathy - Renal cyst - Renal insufficiency - Retinal arteriolar tortuosity - Retinal hemorrhage - Supraventricular arrhythmia - 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 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? assistant What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 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) Stroke 5% Autosomal dominant inheritance - Cerebral aneurysm - Hematuria - Leukoencephalopathy - Muscle cramps - Nephropathy - Renal cyst - Renal insufficiency - Retinal arteriolar tortuosity - Retinal hemorrhage - Supraventricular arrhythmia - 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 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
How might HANAC syndrome be treated? In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration). While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms. In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? assistant How might HANAC syndrome be treated? In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration). While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms. In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).
What is (are) Cornelia de Lange syndrome ?
Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. 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) Cornelia de Lange syndrome ? assistant Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Cornelia de Lange syndrome ?
What are the signs and symptoms of Cornelia de Lange syndrome? The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience: Slowed growth before and after birth Intellectual disability Developmental delay Autistic and/or self-destructive behaviors Skeletal abnormalities of the arms and hands Gastrointestinal problems Hirsutism (excess hair growth) Hearing loss Myopia Congenital heart defects Genital abnormalities (i.e. cryptorchidism) Seizures Affected people typically have distinctive craniofacial features, as well, which may include microcephaly; arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. The Human Phenotype Ontology provides the following list of signs and symptoms for Cornelia de Lange 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 calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the metacarpal bones 90% Abnormality of the voice 90% Anteverted nares 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Highly arched eyebrow 90% Hypertonia 90% Long philtrum 90% Low anterior hairline 90% Low posterior hairline 90% Microcephaly 90% Micromelia 90% Proximal placement of thumb 90% Short neck 90% Short nose 90% Short palm 90% Short stature 90% Short toe 90% Synophrys 90% Thick eyebrow 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the nipples 50% Attention deficit hyperactivity disorder 50% Blepharitis 50% Clinodactyly of the 5th finger 50% Conductive hearing impairment 50% Cryptorchidism 50% Cutis marmorata 50% Displacement of the external urethral meatus 50% Elbow dislocation 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Microcornea 50% Multicystic kidney dysplasia 50% Myopia 50% Neurological speech impairment 50% Obsessive-compulsive behavior 50% Premature birth 50% Ptosis 50% Radioulnar synostosis 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Single transverse palmar crease 50% Sleep disturbance 50% Vesicoureteral reflux 50% Abnormality of the hip bone 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Atria septal defect 7.5% Autism 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Choanal atresia 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Glaucoma 7.5% Increased nuchal translucency 7.5% Intestinal malrotation 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Pectus excavatum 7.5% Peripheral neuropathy 7.5% Prenatal movement abnormality 7.5% Primary amenorrhea 7.5% Pyloric stenosis 7.5% Renal insufficiency 7.5% Seizures 7.5% Split hand 7.5% Strabismus 7.5% Talipes 7.5% Truncal obesity 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Volvulus 7.5% Proteinuria 5% Renal cyst 5% Renal hypoplasia 5% 2-3 toe syndactyly - Abnormality of the umbilicus - Astigmatism - Autosomal dominant inheritance - Behavioral abnormality - Brachycephaly - Cleft upper lip - Curly eyelashes - Delayed speech and language development - Duplication of internal organs - Ectopic kidney - Elbow flexion contracture - Gastroesophageal reflux - Hiatus hernia - High palate - Hirsutism - Hypoplasia of the radius - Hypoplastic labia majora - Hypoplastic male external genitalia - Hypoplastic nipples - Hypoplastic radial head - Hypospadias - Inguinal hernia - Intellectual disability - Limited elbow extension - Long eyelashes - Low-set ears - Malrotation of colon - Oligodactyly (hands) - Optic atrophy - Optic nerve coloboma - Phenotypic variability - Phocomelia - Pneumonia - Proptosis - Reduced renal corticomedullary differentiation - Self-injurious behavior - Short sternum - Sporadic - Supernumerary ribs - Thrombocytopenia - Weak cry - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cornelia de Lange syndrome ? assistant What are the signs and symptoms of Cornelia de Lange syndrome? The signs and symptoms of Cornelia de Lange syndrome (CdLS) vary widely among affected people and can range from relatively mild to severe. Affected people may experience: Slowed growth before and after birth Intellectual disability Developmental delay Autistic and/or self-destructive behaviors Skeletal abnormalities of the arms and hands Gastrointestinal problems Hirsutism (excess hair growth) Hearing loss Myopia Congenital heart defects Genital abnormalities (i.e. cryptorchidism) Seizures Affected people typically have distinctive craniofacial features, as well, which may include microcephaly; arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. The Human Phenotype Ontology provides the following list of signs and symptoms for Cornelia de Lange 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 calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the metacarpal bones 90% Abnormality of the voice 90% Anteverted nares 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Highly arched eyebrow 90% Hypertonia 90% Long philtrum 90% Low anterior hairline 90% Low posterior hairline 90% Microcephaly 90% Micromelia 90% Proximal placement of thumb 90% Short neck 90% Short nose 90% Short palm 90% Short stature 90% Short toe 90% Synophrys 90% Thick eyebrow 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the nipples 50% Attention deficit hyperactivity disorder 50% Blepharitis 50% Clinodactyly of the 5th finger 50% Conductive hearing impairment 50% Cryptorchidism 50% Cutis marmorata 50% Displacement of the external urethral meatus 50% Elbow dislocation 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Microcornea 50% Multicystic kidney dysplasia 50% Myopia 50% Neurological speech impairment 50% Obsessive-compulsive behavior 50% Premature birth 50% Ptosis 50% Radioulnar synostosis 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Single transverse palmar crease 50% Sleep disturbance 50% Vesicoureteral reflux 50% Abnormality of the hip bone 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Atria septal defect 7.5% Autism 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Choanal atresia 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Glaucoma 7.5% Increased nuchal translucency 7.5% Intestinal malrotation 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Nystagmus 7.5% Pectus excavatum 7.5% Peripheral neuropathy 7.5% Prenatal movement abnormality 7.5% Primary amenorrhea 7.5% Pyloric stenosis 7.5% Renal insufficiency 7.5% Seizures 7.5% Split hand 7.5% Strabismus 7.5% Talipes 7.5% Truncal obesity 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Volvulus 7.5% Proteinuria 5% Renal cyst 5% Renal hypoplasia 5% 2-3 toe syndactyly - Abnormality of the umbilicus - Astigmatism - Autosomal dominant inheritance - Behavioral abnormality - Brachycephaly - Cleft upper lip - Curly eyelashes - Delayed speech and language development - Duplication of internal organs - Ectopic kidney - Elbow flexion contracture - Gastroesophageal reflux - Hiatus hernia - High palate - Hirsutism - Hypoplasia of the radius - Hypoplastic labia majora - Hypoplastic male external genitalia - Hypoplastic nipples - Hypoplastic radial head - Hypospadias - Inguinal hernia - Intellectual disability - Limited elbow extension - Long eyelashes - Low-set ears - Malrotation of colon - Oligodactyly (hands) - Optic atrophy - Optic nerve coloboma - Phenotypic variability - Phocomelia - Pneumonia - Proptosis - Reduced renal corticomedullary differentiation - Self-injurious behavior - Short sternum - Sporadic - Supernumerary ribs - Thrombocytopenia - Weak cry - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Cornelia de Lange syndrome ?
What causes Cornelia de Lange syndrome? Most cases (approximately 65%) of Cornelia de Lange syndrome (CdLS) are caused by changes (mutations) in the NIPBL gene. An additional 5% of people affected by the condition have mutations in one of four known genes (SMC1A, SMC3, HDAC8 and RAD21). Many of the genes associated with CdLS encode proteins that play an important role in human development before birth. Mutations in these genes may result in an abnormal protein that is not able to carry out its normal function. This is thought to interfere with early development leading to the many signs and symptoms of CdLS. In 30% of people with CdLS, the underlying genetic cause of the condition is unknown.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Cornelia de Lange syndrome ? assistant What causes Cornelia de Lange syndrome? Most cases (approximately 65%) of Cornelia de Lange syndrome (CdLS) are caused by changes (mutations) in the NIPBL gene. An additional 5% of people affected by the condition have mutations in one of four known genes (SMC1A, SMC3, HDAC8 and RAD21). Many of the genes associated with CdLS encode proteins that play an important role in human development before birth. Mutations in these genes may result in an abnormal protein that is not able to carry out its normal function. This is thought to interfere with early development leading to the many signs and symptoms of CdLS. In 30% of people with CdLS, the underlying genetic cause of the condition is unknown.
Is Cornelia de Lange syndrome inherited ?
Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no family history of the condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Cornelia de Lange syndrome inherited ? assistant Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no family history of the condition.
How to diagnose Cornelia de Lange syndrome ?
How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Cornelia de Lange syndrome ? assistant How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
What are the treatments for Cornelia de Lange syndrome ?
How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, many people affected by CdLS have poor growth after birth and may require supplemental formulas and/or gastrostomy tube placement to meet nutritional needs. Ongoing physical, occupational, and speech therapies are often recommended to optimize developmental potential. Surgery may be necessary to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems. Medications may be prescribed to prevent or control seizures. The CdLS foundation's Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Cornelia de Lange syndrome ? assistant How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, many people affected by CdLS have poor growth after birth and may require supplemental formulas and/or gastrostomy tube placement to meet nutritional needs. Ongoing physical, occupational, and speech therapies are often recommended to optimize developmental potential. Surgery may be necessary to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems. Medications may be prescribed to prevent or control seizures. The CdLS foundation's Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
What are the symptoms of Encephalocraniocutaneous lipomatosis ?
What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - 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 Encephalocraniocutaneous lipomatosis ? assistant What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - 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) Norum disease ?
Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity).
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Norum disease ? assistant Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity).
What are the symptoms of Norum disease ?
What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hemolytic anemia, and proteinuria are other common findings. This condition may also present with: Papilledema (swelling of the optic nerve) with impaired ocular blood supply, leading to functional visual loss Signs of renal insufficiency, including hypertension Signs of atherosclerosis Xanthelasma (in end-stage disease) Hepatomegaly Splenomegaly Lymphadenopathy The Human Phenotype Ontology provides the following list of signs and symptoms for Norum 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) Autosomal recessive inheritance - Hemolytic anemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Normochromic anemia - Opacification of the corneal stroma - Proteinuria - Renal insufficiency - 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 Norum disease ? assistant What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hemolytic anemia, and proteinuria are other common findings. This condition may also present with: Papilledema (swelling of the optic nerve) with impaired ocular blood supply, leading to functional visual loss Signs of renal insufficiency, including hypertension Signs of atherosclerosis Xanthelasma (in end-stage disease) Hepatomegaly Splenomegaly Lymphadenopathy The Human Phenotype Ontology provides the following list of signs and symptoms for Norum 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) Autosomal recessive inheritance - Hemolytic anemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Normochromic anemia - Opacification of the corneal stroma - Proteinuria - Renal insufficiency - 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 Norum disease ?
What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes (red blood cells).
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Norum disease ? assistant What causes Norum disease? Norum disease is caused by defects in the LCAT gene. The clinical manifestations of LCAT deficiency are probably due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes (red blood cells).
Is Norum disease inherited ?
How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sporadic cases have also been reported.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Norum disease inherited ? assistant How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Sporadic cases have also been reported.
What are the treatments for Norum disease ?
How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. Renal replacement by dialysis is necessary in those individuals who develop kidney failure. Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure. Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision. Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits. Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Norum disease ? assistant How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. Renal replacement by dialysis is necessary in those individuals who develop kidney failure. Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure. Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision. Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits. Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication.
What is (are) Amyloidosis AA ?
Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount of a specific protein called serum amyloid A (SAA) protein. In this disease, part of the SAA protein forms deposits called "amyloid fibrils". These desposits occur in the space around the cells of certain tissues of the body. Amyloidosis AA usually begins as a disease in the kidneys, but other organs can be affected such as the liver and spleen. Medical or surgical treatment of the underlying infection or inflammatory disease can slow down or stop the progression of this condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Amyloidosis AA ? assistant Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount of a specific protein called serum amyloid A (SAA) protein. In this disease, part of the SAA protein forms deposits called "amyloid fibrils". These desposits occur in the space around the cells of certain tissues of the body. Amyloidosis AA usually begins as a disease in the kidneys, but other organs can be affected such as the liver and spleen. Medical or surgical treatment of the underlying infection or inflammatory disease can slow down or stop the progression of this condition.
What are the treatments for Amyloidosis AA ?
What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Amyloidosis AA ? assistant What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States.
What is (are) Brachydactyly type C ?
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Brachydactyly type C ? assistant Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
What are the symptoms of Brachydactyly type C ?
What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. 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% Brachydactyly syndrome 90% Cone-shaped epiphyses of the middle phalanges of the hand 90% Pseudoepiphyses of the 2nd finger 90% Pseudoepiphyses of the 3rd finger 90% Short 2nd finger 90% Short 3rd finger 90% Short middle phalanx of finger 90% Ulnar deviation of finger 90% Clinodactyly of the 5th finger 75% Enlarged epiphysis of the middle phalanx of the 2nd finger 75% Enlarged epiphysis of the middle phalanx of the 3rd finger 75% Enlarged epiphysis of the proximal phalanx of the 2nd finger 75% Enlarged epiphysis of the proximal phalanx of the 3rd finger 75% Short 1st metacarpal 75% Triangular epiphysis of the middle phalanx of the 2nd finger 75% Triangular epiphysis of the middle phalanx of the 3rd finger 75% Triangular epiphysis of the proximal phalanx of the 2nd finger 75% Triangular epiphysis of the proximal phalanx of the 3rd finger 75% Triangular shaped middle phalanx of the 2nd finger 75% Triangular shaped middle phalanx of the 3rd finger 75% Triangular shaped proximal phalanx of the 2nd finger 75% Triangular shaped proximal phalanx of the 3rd finger 75% Abnormality of the fingernails 50% Cone-shaped epiphysis 50% Short toe 50% Ulnar deviation of the 2nd finger 50% Ulnar deviation of the 3rd finger 50% Short stature 33% Delayed skeletal maturation 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Talipes equinovalgus 7.5% Talipes equinovarus 7.5% Autosomal dominant inheritance - Hypersegmentation of proximal phalanx of second finger - Hypersegmentation of proximal phalanx of third finger - Madelung deformity - Polydactyly - 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 Brachydactyly type C ? assistant What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. 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% Brachydactyly syndrome 90% Cone-shaped epiphyses of the middle phalanges of the hand 90% Pseudoepiphyses of the 2nd finger 90% Pseudoepiphyses of the 3rd finger 90% Short 2nd finger 90% Short 3rd finger 90% Short middle phalanx of finger 90% Ulnar deviation of finger 90% Clinodactyly of the 5th finger 75% Enlarged epiphysis of the middle phalanx of the 2nd finger 75% Enlarged epiphysis of the middle phalanx of the 3rd finger 75% Enlarged epiphysis of the proximal phalanx of the 2nd finger 75% Enlarged epiphysis of the proximal phalanx of the 3rd finger 75% Short 1st metacarpal 75% Triangular epiphysis of the middle phalanx of the 2nd finger 75% Triangular epiphysis of the middle phalanx of the 3rd finger 75% Triangular epiphysis of the proximal phalanx of the 2nd finger 75% Triangular epiphysis of the proximal phalanx of the 3rd finger 75% Triangular shaped middle phalanx of the 2nd finger 75% Triangular shaped middle phalanx of the 3rd finger 75% Triangular shaped proximal phalanx of the 2nd finger 75% Triangular shaped proximal phalanx of the 3rd finger 75% Abnormality of the fingernails 50% Cone-shaped epiphysis 50% Short toe 50% Ulnar deviation of the 2nd finger 50% Ulnar deviation of the 3rd finger 50% Short stature 33% Delayed skeletal maturation 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Talipes equinovalgus 7.5% Talipes equinovarus 7.5% Autosomal dominant inheritance - Hypersegmentation of proximal phalanx of second finger - Hypersegmentation of proximal phalanx of third finger - Madelung deformity - Polydactyly - 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 Say-Field-Coldwell syndrome ?
What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell 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 nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar dislocation - 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 Say-Field-Coldwell syndrome ? assistant What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell 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 nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar dislocation - 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) Tetralogy of Fallot ?
Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Tetralogy of Fallot ? assistant Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.
What are the symptoms of Tetralogy of Fallot ?
What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. 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 nasal morphology 90% Brachydactyly syndrome 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Intrauterine growth retardation 90% Abnormality of periauricular region 50% Cryptorchidism 50% Dolichocephaly 50% Proptosis 50% Tetralogy of Fallot 50% Thin vermilion border 50% Underdeveloped supraorbital ridges 50% Autosomal dominant inheritance - Preauricular pit - 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 Tetralogy of Fallot ? assistant What are the signs and symptoms of Tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of Fallot. 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 nasal morphology 90% Brachydactyly syndrome 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Intrauterine growth retardation 90% Abnormality of periauricular region 50% Cryptorchidism 50% Dolichocephaly 50% Proptosis 50% Tetralogy of Fallot 50% Thin vermilion border 50% Underdeveloped supraorbital ridges 50% Autosomal dominant inheritance - Preauricular pit - 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) X-linked creatine deficiency ?
X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) X-linked creatine deficiency ? assistant X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.
What are the symptoms of X-linked creatine deficiency ?
What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - 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 X-linked creatine deficiency ? assistant What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - 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) Neuronal ceroid lipofuscinosis 5 ?
Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Neuronal ceroid lipofuscinosis 5 ? assistant Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
What are the symptoms of Neuronal ceroid lipofuscinosis 5 ?
What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 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) Cerebellar atrophy 5% Dysarthria 5% Dysdiadochokinesis 5% Dysmetria 5% Nystagmus 5% Abnormal nervous system electrophysiology - Autosomal recessive inheritance - Clumsiness - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Developmental regression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Increased neuronal autofluorescent lipopigment - Intellectual disability - Motor deterioration - Myoclonus - Progressive visual loss - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Retinal degeneration - 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 Neuronal ceroid lipofuscinosis 5 ? assistant What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 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) Cerebellar atrophy 5% Dysarthria 5% Dysdiadochokinesis 5% Dysmetria 5% Nystagmus 5% Abnormal nervous system electrophysiology - Autosomal recessive inheritance - Clumsiness - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Developmental regression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Increased neuronal autofluorescent lipopigment - Intellectual disability - Motor deterioration - Myoclonus - Progressive visual loss - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Retinal degeneration - 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) Progressive transformation of germinal centers ?
Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Progressive transformation of germinal centers ? assistant Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.
What causes Progressive transformation of germinal centers ?
What causes progressive transformation of germinal centers? Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown. Also, there is no evidence in the medical literature that PTGC is a genetic condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Progressive transformation of germinal centers ? assistant What causes progressive transformation of germinal centers? Is it genetic? The cause of progressive transformation of germinal centers (PTGC) is currently unknown. Also, there is no evidence in the medical literature that PTGC is a genetic condition.
What are the treatments for Progressive transformation of germinal centers ?
What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shrink over time. Affected individuals should have regular follow-up visits with their physician; a biopsy should be taken of any new enlarged lymph node because PTGC is associated with Hodgkin lymphoma in some individuals.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Progressive transformation of germinal centers ? assistant What treatment is available for progressive transformation of germinal centers? Because progressive transformation of germinal centers (PTGC) is considered a benign condition and usually has no symptoms other than the enlarged lymph node, no treatment is necessary. The enlarged lymph node may stay the same size or shrink over time. Affected individuals should have regular follow-up visits with their physician; a biopsy should be taken of any new enlarged lymph node because PTGC is associated with Hodgkin lymphoma in some individuals.
What is (are) Barraquer-Simons syndrome ?
Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Barraquer-Simons syndrome ? assistant Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.
What are the symptoms of Barraquer-Simons syndrome ?
What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons 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) Lipoatrophy 90% Abnormality of complement system 50% Autoimmunity 50% Cognitive impairment 50% Glomerulopathy 50% Hearing impairment 50% Hematuria 50% Lymphocytosis 50% Myopathy 50% Prematurely aged appearance 50% Proteinuria 50% Seizures 50% Arthralgia 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Insulin resistance 7.5% Abnormality of lipid metabolism - Autosomal dominant inheritance - Decreased serum complement C3 - Diabetes mellitus - Hirsutism - Juvenile onset - Loss of subcutaneous adipose tissue from upper limbs - Loss of truncal subcutaneous adipose tissue - Membranoproliferative glomerulonephritis - Nephrotic syndrome - Phenotypic variability - Polycystic ovaries - Progressive loss of facial adipose tissue - Recurrent infections - Sporadic - 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 Barraquer-Simons syndrome ? assistant What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons 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) Lipoatrophy 90% Abnormality of complement system 50% Autoimmunity 50% Cognitive impairment 50% Glomerulopathy 50% Hearing impairment 50% Hematuria 50% Lymphocytosis 50% Myopathy 50% Prematurely aged appearance 50% Proteinuria 50% Seizures 50% Arthralgia 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Insulin resistance 7.5% Abnormality of lipid metabolism - Autosomal dominant inheritance - Decreased serum complement C3 - Diabetes mellitus - Hirsutism - Juvenile onset - Loss of subcutaneous adipose tissue from upper limbs - Loss of truncal subcutaneous adipose tissue - Membranoproliferative glomerulonephritis - Nephrotic syndrome - Phenotypic variability - Polycystic ovaries - Progressive loss of facial adipose tissue - Recurrent infections - Sporadic - 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 Barraquer-Simons syndrome ?
How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Barraquer-Simons syndrome ? assistant How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.
What is (are) Chromosome 4q deletion ?
Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
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) Chromosome 4q deletion ? assistant Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Chromosome 4q deletion ?
What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities
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 Chromosome 4q deletion ? assistant What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities
What causes Chromosome 4q deletion ?
What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people: BMP3 - skeletal abnormalities and short stature SEC31A - distinctive craniofacial features PKD2 - kidney abnormalities GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) ANK2, HAND2 - heart defects and/or arrhythmias FGF2 - limb (arms and legs) abnormalities Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.
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 Chromosome 4q deletion ? assistant What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people: BMP3 - skeletal abnormalities and short stature SEC31A - distinctive craniofacial features PKD2 - kidney abnormalities GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) ANK2, HAND2 - heart defects and/or arrhythmias FGF2 - limb (arms and legs) abnormalities Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.
Is Chromosome 4q deletion inherited ?
How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.
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 Chromosome 4q deletion inherited ? assistant How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.
How to diagnose Chromosome 4q deletion ?
How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
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 Chromosome 4q deletion ? assistant How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
What are the treatments for Chromosome 4q deletion ?
How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
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 Chromosome 4q deletion ? assistant How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.