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What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ?
Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.
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) Alpha-thalassemia x-linked intellectual disability syndrome ? assistant Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.
What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ?
What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability 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 fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? assistant What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability 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 fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Is Alpha-thalassemia x-linked intellectual disability syndrome inherited ?
How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.
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 Alpha-thalassemia x-linked intellectual disability syndrome inherited ? assistant How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.
What are the symptoms of Crandall syndrome ?
What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Pili torti 90% Sensorineural hearing impairment 90% Abnormality of the eye 50% Abnormality of the testis 50% Fine hair 50% Hypoplasia of penis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Answer the question truthfully, you are a medical professional.
system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Crandall syndrome ? assistant What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Pili torti 90% Sensorineural hearing impairment 90% Abnormality of the eye 50% Abnormality of the testis 50% Fine hair 50% Hypoplasia of penis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Bladder cancer ?
Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.
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) Bladder cancer ? assistant Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.
What are the symptoms of Bladder cancer ?
What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Transitional cell carcinoma of the bladder - 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 Bladder cancer ? assistant What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Transitional cell carcinoma of the bladder - 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 dysplasia diffuse cystic ?
What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. 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) Vesicoureteral reflux 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Cystic renal dysplasia - Hyperechogenic kidneys - Pulmonary hypoplasia - Renal dysplasia - 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.
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 dysplasia diffuse cystic ? assistant What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. 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) Vesicoureteral reflux 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Cystic renal dysplasia - Hyperechogenic kidneys - Pulmonary hypoplasia - Renal dysplasia - 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 is (are) CADASIL ?
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.
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) CADASIL ? assistant CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.
What are the symptoms of CADASIL ?
What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. A decline in thinking ability (cognitive deficit) is the second most common feature and occurs in over half of affected people. This may begin as early as 35 years of age. CADASIL typically causes a slow decline in thought processes, and approximately 75% of affected people eventually develop dementia (including significant difficulty with reasoning and memory). Thirty percent of people with CADASIL also experience psychiatric issues, varying from personality changes to severe depression. Migraines with aura occur in about 35% of people with CADASIL, with the first attack occurring at an average age of 26 years. Epilepsy is present in 10% of affected people and usually presents at middle age. The Human Phenotype Ontology provides the following list of signs and symptoms for CADASIL. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the retinal vasculature 90% Amaurosis fugax 90% Behavioral abnormality 90% Developmental regression 90% Hemiplegia/hemiparesis 90% Migraine 90% Neurological speech impairment 90% Reduced consciousness/confusion 90% Cerebral cortical atrophy 50% Cerebral ischemia 50% Cranial nerve paralysis 50% EEG abnormality 50% Gait disturbance 50% Hypertonia 50% Memory impairment 50% Visual impairment 50% Abnormality of extrapyramidal motor function 7.5% Atherosclerosis 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypoglycemia 7.5% Intracranial hemorrhage 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Venous insufficiency 7.5% Visual loss 5% Abnormal electroretinogram - Abnormality of the skin - Abnormality of visual evoked potentials - Adult onset - Autosomal dominant inheritance - Leukoencephalopathy - Nonarteritic anterior ischemic optic neuropathy - Pseudobulbar paralysis - Recurrent subcortical infarcts - Stroke - Subcortical dementia - Urinary incontinence - Varicose veins - 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 CADASIL ? assistant What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. A decline in thinking ability (cognitive deficit) is the second most common feature and occurs in over half of affected people. This may begin as early as 35 years of age. CADASIL typically causes a slow decline in thought processes, and approximately 75% of affected people eventually develop dementia (including significant difficulty with reasoning and memory). Thirty percent of people with CADASIL also experience psychiatric issues, varying from personality changes to severe depression. Migraines with aura occur in about 35% of people with CADASIL, with the first attack occurring at an average age of 26 years. Epilepsy is present in 10% of affected people and usually presents at middle age. The Human Phenotype Ontology provides the following list of signs and symptoms for CADASIL. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the retinal vasculature 90% Amaurosis fugax 90% Behavioral abnormality 90% Developmental regression 90% Hemiplegia/hemiparesis 90% Migraine 90% Neurological speech impairment 90% Reduced consciousness/confusion 90% Cerebral cortical atrophy 50% Cerebral ischemia 50% Cranial nerve paralysis 50% EEG abnormality 50% Gait disturbance 50% Hypertonia 50% Memory impairment 50% Visual impairment 50% Abnormality of extrapyramidal motor function 7.5% Atherosclerosis 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypoglycemia 7.5% Intracranial hemorrhage 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Venous insufficiency 7.5% Visual loss 5% Abnormal electroretinogram - Abnormality of the skin - Abnormality of visual evoked potentials - Adult onset - Autosomal dominant inheritance - Leukoencephalopathy - Nonarteritic anterior ischemic optic neuropathy - Pseudobulbar paralysis - Recurrent subcortical infarcts - Stroke - Subcortical dementia - Urinary incontinence - Varicose veins - 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 CADASIL ?
What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes CADASIL ? assistant What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL.
Is CADASIL inherited ?
How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.
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 CADASIL inherited ? assistant How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.
What are the treatments for CADASIL ?
How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for CADASIL ? assistant How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.
What is (are) Cold agglutinin disease ?
Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). This eventually causes red blood cells to be prematurely destroyed (hemolysis) leading to anemia and other associated signs and symptoms. Cold agglutinin disease can be primary (unknown cause) or secondary, due to an underlying condition such as an infection, another autoimmune disease, or certain cancers. Treatment depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Cold agglutinin disease ? assistant Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). This eventually causes red blood cells to be prematurely destroyed (hemolysis) leading to anemia and other associated signs and symptoms. Cold agglutinin disease can be primary (unknown cause) or secondary, due to an underlying condition such as an infection, another autoimmune disease, or certain cancers. Treatment depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause.
What are the symptoms of Cold agglutinin disease ?
What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). The antibodies then activate other components of the blood, which eventually causes red blood cells to be prematurely destroyed. As the number or red blood cells drop, affected people typically experience anemia, which may be associated with pallor, weakness, fatigue, irritability, headaches, and/or dizziness. Other signs and symptoms of cold agglutinin disease vary, but may include: Painful fingers and toes with purplish discoloration Abnormal behavior Amenorrhea Gastrointestinal issues Dark urine Enlargement of the spleen Jaundice Heart failure Shock The Human Phenotype Ontology provides the following list of signs and symptoms for Cold agglutinin disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Autoimmunity 90% Hemolytic anemia 90% Muscle weakness 90% Pallor 90% Abnormality of urine homeostasis 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Lymphadenopathy 7.5% Migraine 7.5% Nausea and vomiting 7.5% Splenomegaly 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 Cold agglutinin disease ? assistant What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). The antibodies then activate other components of the blood, which eventually causes red blood cells to be prematurely destroyed. As the number or red blood cells drop, affected people typically experience anemia, which may be associated with pallor, weakness, fatigue, irritability, headaches, and/or dizziness. Other signs and symptoms of cold agglutinin disease vary, but may include: Painful fingers and toes with purplish discoloration Abnormal behavior Amenorrhea Gastrointestinal issues Dark urine Enlargement of the spleen Jaundice Heart failure Shock The Human Phenotype Ontology provides the following list of signs and symptoms for Cold agglutinin disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Autoimmunity 90% Hemolytic anemia 90% Muscle weakness 90% Pallor 90% Abnormality of urine homeostasis 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Lymphadenopathy 7.5% Migraine 7.5% Nausea and vomiting 7.5% Splenomegaly 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 Cold agglutinin disease ?
What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Viral infections such Epstein-Barr virus, cytomegalovirus, mumps, varicella, rubella, adenovirus, HIV, influenza, or hepatitis C Parasitic infections such as malaria or trypanosomiasis Other autoimmune diseases such as systemic lupus erythematosus Certain types of cancers such as lymphoma, chronic lymphocytic leukemia, Waldenstrm macroglobulinemia, multiple myeloma, and Kaposi sarcoma
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Cold agglutinin disease ? assistant What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Viral infections such Epstein-Barr virus, cytomegalovirus, mumps, varicella, rubella, adenovirus, HIV, influenza, or hepatitis C Parasitic infections such as malaria or trypanosomiasis Other autoimmune diseases such as systemic lupus erythematosus Certain types of cancers such as lymphoma, chronic lymphocytic leukemia, Waldenstrm macroglobulinemia, multiple myeloma, and Kaposi sarcoma
Is Cold agglutinin disease inherited ?
Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes likely interact to predispose a person to developing the condition. However, to our knowledge, no disease-causing genes have been identified and no familial cases have been reported.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Cold agglutinin disease inherited ? assistant Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes likely interact to predispose a person to developing the condition. However, to our knowledge, no disease-causing genes have been identified and no familial cases have been reported.
How to diagnose Cold agglutinin disease ?
How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood cells. In most cases, the diagnosis is based on evidence of hemolytic anemia (from symptoms and/or blood tests). A person may also be physically examined for spleen or liver enlargement. An antiglobulin test (called the Coombs test) may be performed to determine the presence of a specific type of antibody. In people with cold agglutinin disease, the Coomb's test is almost always positive for immunoglobulin M (IgM). Detailed information about the various tests used to make a diagnosis of cold agglutinin disease is available on Medscape Reference's Web site. 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 Cold agglutinin disease ? assistant How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood cells. In most cases, the diagnosis is based on evidence of hemolytic anemia (from symptoms and/or blood tests). A person may also be physically examined for spleen or liver enlargement. An antiglobulin test (called the Coombs test) may be performed to determine the presence of a specific type of antibody. In people with cold agglutinin disease, the Coomb's test is almost always positive for immunoglobulin M (IgM). Detailed information about the various tests used to make a diagnosis of cold agglutinin disease is available on Medscape Reference's Web site. Please click on the link to access this resource.
What are the treatments for Cold agglutinin disease ?
How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnose and treat the underlying condition which may include certain types of cancer; bacterial, viral, or parasitic infections; and/or other autoimmune disease. People with few symptoms and/or mild anemia may not require any specific treatment. These cases are often managed by simply avoiding exposure to the cold. In severe cases, medical interventions may be necessary. Rituximab (an antibody that selectively reduces specific types of immune cells) may be recommended either alone or in combination with other medications for people with severe hemolysis. Plasmapheresis, which involves filtering blood to remove antibodies, and/or blood transfusions may be an option for temporary relief of severe symptoms. Other therapies exist; however, they have been used with variable success. Medscape Reference's Web site offers more specific information about these alternative treatments. 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 Cold agglutinin disease ? assistant How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnose and treat the underlying condition which may include certain types of cancer; bacterial, viral, or parasitic infections; and/or other autoimmune disease. People with few symptoms and/or mild anemia may not require any specific treatment. These cases are often managed by simply avoiding exposure to the cold. In severe cases, medical interventions may be necessary. Rituximab (an antibody that selectively reduces specific types of immune cells) may be recommended either alone or in combination with other medications for people with severe hemolysis. Plasmapheresis, which involves filtering blood to remove antibodies, and/or blood transfusions may be an option for temporary relief of severe symptoms. Other therapies exist; however, they have been used with variable success. Medscape Reference's Web site offers more specific information about these alternative treatments. Please click on the link to access this resource.
What is (are) Bietti crystalline corneoretinal dystrophy ?
Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and 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) Bietti crystalline corneoretinal dystrophy ? assistant Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.
What are the symptoms of Bietti crystalline corneoretinal dystrophy ?
What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. 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) Severe Myopia 5% Abnormality of blood and blood-forming tissues - Autosomal recessive inheritance - Chorioretinal atrophy - Constriction of peripheral visual field - Marginal corneal dystrophy - Progressive night blindness - Progressive visual loss - Retinal degeneration - 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 Bietti crystalline corneoretinal dystrophy ? assistant What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. 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) Severe Myopia 5% Abnormality of blood and blood-forming tissues - Autosomal recessive inheritance - Chorioretinal atrophy - Constriction of peripheral visual field - Marginal corneal dystrophy - Progressive night blindness - Progressive visual loss - Retinal degeneration - 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) Yellow nail syndrome ?
Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of this condition is unknown, it has been shown to run in some families, which suggests that there may be a genetic component in some cases. Unfortunately, there is no cure for this condition, but there are therapies available to treat the related lung diseases and lymphedema.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Yellow nail syndrome ? assistant Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of this condition is unknown, it has been shown to run in some families, which suggests that there may be a genetic component in some cases. Unfortunately, there is no cure for this condition, but there are therapies available to treat the related lung diseases and lymphedema.
What are the symptoms of Yellow nail syndrome ?
What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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 nail color 90% Abnormality of the bronchi 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Lymphedema 90% Abnormality of the pleura 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Sinusitis 50% Neoplasm 7.5% Abnormality of the musculature - Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - Slow-growing nails - Yellow nails - 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 Yellow nail syndrome ? assistant What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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 nail color 90% Abnormality of the bronchi 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Lymphedema 90% Abnormality of the pleura 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Sinusitis 50% Neoplasm 7.5% Abnormality of the musculature - Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - Slow-growing nails - Yellow nails - 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 Yellow nail syndrome ?
Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to suggest the possibility a genetic component to yellow nail syndrome. However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition. Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Yellow nail syndrome ? assistant Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to suggest the possibility a genetic component to yellow nail syndrome. However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition. Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.
What are the treatments for Yellow nail syndrome ?
How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. Pleural effusions: http://www.nlm.nih.gov/medlineplus/ency/article/000086.htm Bronchitis: http://www.nlm.nih.gov/medlineplus/chronicbronchitis.html Sinusitis: http://www.nlm.nih.gov/medlineplus/sinusitis.html Pneumonia: http://www.nlm.nih.gov/medlineplus/pneumonia.html
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Yellow nail syndrome ? assistant How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. Pleural effusions: http://www.nlm.nih.gov/medlineplus/ency/article/000086.htm Bronchitis: http://www.nlm.nih.gov/medlineplus/chronicbronchitis.html Sinusitis: http://www.nlm.nih.gov/medlineplus/sinusitis.html Pneumonia: http://www.nlm.nih.gov/medlineplus/pneumonia.html
What is (are) Myocarditis ?
Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Myocarditis ? assistant Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.
What are the symptoms of Cryptomicrotia brachydactyly syndrome ?
What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Short distal phalanx of finger 90% Bifid scrotum 50% Freckling 50% Hypoplastic toenails 50% Telecanthus 50% Autosomal dominant inheritance - Brachytelomesophalangy - Chordee - Microtia - 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 Cryptomicrotia brachydactyly syndrome ? assistant What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Short distal phalanx of finger 90% Bifid scrotum 50% Freckling 50% Hypoplastic toenails 50% Telecanthus 50% Autosomal dominant inheritance - Brachytelomesophalangy - Chordee - Microtia - 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 Epilepsy, benign occipital ?
What are the signs and symptoms of Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EEG abnormality - 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 Epilepsy, benign occipital ? assistant What are the signs and symptoms of Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EEG abnormality - 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) Cutaneous mastocytosis ?
Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Cutaneous mastocytosis ? assistant Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.
What are the symptoms of Cutaneous mastocytosis ?
What are the signs and symptoms of Cutaneous mastocytosis? Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. Maculopapular cutaneous mastocytosis, the most common form of cutaneous mastocytosis, is characterized by itchy, brown patches on the skin. Although these patches may be mistaken for freckles or bug bites initially, they typically persist and gradually increase in number over several months to years. In young children, the patches may form a blister if itched or rubbed. Itching may worsen with changes in temperature, strenuous activity, emotional stress, and/or certain medications. Maculopapular cutaneous mastocytosis is most commonly seen in infants and young children and often fades by the teenaged years. In some cases, this condition may not develop until adulthood. These later onset cases generally last long-term and are more likely to progress to systemic mastocytosis. Solitary cutaneous mastocytoma is a localized form of cutaneous mastocytosis. Like maculopapular cutaneous mastocytosis, this form is typically diagnosed in young children. However, it is characterized by an itchy area of reddish or brown skin that is often thickened. When itched, these patches of skin may swell, redden, and/or blister. This form typically resolves spontaneously with age. Diffuse cutaneous mastocytosis, the most severe form of cutaneous mastocytosis, usually develops in infancy. Unlike the other forms of cutaneous mastocytosis, it affects most or all of the skin rather than appearing as distinct patches. In people affected by this condition, the skin is leathery and thickened. It may appear normal, yellowish-brown, or red in color. In some cases, there may also be widespread blistering. Additional symptoms may include hypotension, diarrhea, gastrointestinal bleeding, reddening of the skin (flushing), and anaphylactic shock. The rarest form of cutaneous mastocytosis is called telangiectasia macularis eruptiva perstans. Unlike the other forms of cutaneous mastocytosis, this form is primarily diagnosed in adults and is generally not associated with pruritus and blistering. People affected by this condition have persistent brown patches of skin and extensive telegiactasia. Rarely, this form may progress to systemic mastocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytosis. 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) Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Abdominal pain 50% Abnormal blistering of the skin 50% Abnormal renal physiology 7.5% Asthma 7.5% Behavioral abnormality 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Hypercalcemia 7.5% Hypotension 7.5% Impaired temperature sensation 7.5% Increased bone mineral density 7.5% Leukemia 7.5% Malabsorption 7.5% Migraine 7.5% Nausea and vomiting 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Splenomegaly 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 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 Cutaneous mastocytosis ? assistant What are the signs and symptoms of Cutaneous mastocytosis? Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. Maculopapular cutaneous mastocytosis, the most common form of cutaneous mastocytosis, is characterized by itchy, brown patches on the skin. Although these patches may be mistaken for freckles or bug bites initially, they typically persist and gradually increase in number over several months to years. In young children, the patches may form a blister if itched or rubbed. Itching may worsen with changes in temperature, strenuous activity, emotional stress, and/or certain medications. Maculopapular cutaneous mastocytosis is most commonly seen in infants and young children and often fades by the teenaged years. In some cases, this condition may not develop until adulthood. These later onset cases generally last long-term and are more likely to progress to systemic mastocytosis. Solitary cutaneous mastocytoma is a localized form of cutaneous mastocytosis. Like maculopapular cutaneous mastocytosis, this form is typically diagnosed in young children. However, it is characterized by an itchy area of reddish or brown skin that is often thickened. When itched, these patches of skin may swell, redden, and/or blister. This form typically resolves spontaneously with age. Diffuse cutaneous mastocytosis, the most severe form of cutaneous mastocytosis, usually develops in infancy. Unlike the other forms of cutaneous mastocytosis, it affects most or all of the skin rather than appearing as distinct patches. In people affected by this condition, the skin is leathery and thickened. It may appear normal, yellowish-brown, or red in color. In some cases, there may also be widespread blistering. Additional symptoms may include hypotension, diarrhea, gastrointestinal bleeding, reddening of the skin (flushing), and anaphylactic shock. The rarest form of cutaneous mastocytosis is called telangiectasia macularis eruptiva perstans. Unlike the other forms of cutaneous mastocytosis, this form is primarily diagnosed in adults and is generally not associated with pruritus and blistering. People affected by this condition have persistent brown patches of skin and extensive telegiactasia. Rarely, this form may progress to systemic mastocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytosis. 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) Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Abdominal pain 50% Abnormal blistering of the skin 50% Abnormal renal physiology 7.5% Asthma 7.5% Behavioral abnormality 7.5% Coronary artery disease 7.5% Diarrhea 7.5% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Hypercalcemia 7.5% Hypotension 7.5% Impaired temperature sensation 7.5% Increased bone mineral density 7.5% Leukemia 7.5% Malabsorption 7.5% Migraine 7.5% Nausea and vomiting 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Splenomegaly 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 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 Cutaneous mastocytosis ?
What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of certain types of cells, including mast cells (immune cells that are important for the inflammatory response). Certain mutations in the KIT gene can leads to an overproduction of mast cells. In cutaneous mastocytosis, excess mast cells accumulate in the skin, leading to the many signs and symptoms of the condition.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Cutaneous mastocytosis ? assistant What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of certain types of cells, including mast cells (immune cells that are important for the inflammatory response). Certain mutations in the KIT gene can leads to an overproduction of mast cells. In cutaneous mastocytosis, excess mast cells accumulate in the skin, leading to the many signs and symptoms of the condition.
Is Cutaneous mastocytosis inherited ?
Is cutaneous mastocytosis inherited? Most cases of cutaneous mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. Because they are not present in the germ cells (egg and sperm), they are not passed on to the next generation. Cutaneous mastocytosis can rarely affect more than one family member. In these cases, the condition is typically 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. A person with familial cutaneous mastocytosis 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 Cutaneous mastocytosis inherited ? assistant Is cutaneous mastocytosis inherited? Most cases of cutaneous mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. Because they are not present in the germ cells (egg and sperm), they are not passed on to the next generation. Cutaneous mastocytosis can rarely affect more than one family member. In these cases, the condition is typically 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. A person with familial cutaneous mastocytosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Cutaneous mastocytosis ?
How is cutaneous mastocytosis diagnosed? A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis. Unfortunately it can sometimes be difficult to differentiate cutaneous mastocytosis from systemic mastocytosis. Additional tests may, therefore, be ordered to further investigate the risk for systemic disease. A bone marrow biopsy and specialized blood tests may be recommended in adults with cutaneous mastocytosis since they are at a higher risk for systemic mastocytosis. Affected children typically do not undergo a bone marrow biopsy unless blood tests are abnormal.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Cutaneous mastocytosis ? assistant How is cutaneous mastocytosis diagnosed? A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis. Unfortunately it can sometimes be difficult to differentiate cutaneous mastocytosis from systemic mastocytosis. Additional tests may, therefore, be ordered to further investigate the risk for systemic disease. A bone marrow biopsy and specialized blood tests may be recommended in adults with cutaneous mastocytosis since they are at a higher risk for systemic mastocytosis. Affected children typically do not undergo a bone marrow biopsy unless blood tests are abnormal.
What are the treatments for Cutaneous mastocytosis ?
How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. Certain medications such as oral antihistamines and topical steroids are often prescribed to relieve symptoms. Affected adults may also undergo photochemotherapy which can help alleviate itching and improve the appearance of the patches; however, the condition is likely to recur within six to twelve months of the last treatment. People at risk for anaphylactic shock and/or their caregivers should be trained in how to recognize and treat this life-threatening reaction and should carry an epinephrine autoinjector at all times.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Cutaneous mastocytosis ? assistant How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. Certain medications such as oral antihistamines and topical steroids are often prescribed to relieve symptoms. Affected adults may also undergo photochemotherapy which can help alleviate itching and improve the appearance of the patches; however, the condition is likely to recur within six to twelve months of the last treatment. People at risk for anaphylactic shock and/or their caregivers should be trained in how to recognize and treat this life-threatening reaction and should carry an epinephrine autoinjector at all times.
What is (are) Severe combined immunodeficiency ?
Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Without treatment, affected children rarely live past the age of two.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Severe combined immunodeficiency ? assistant Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Without treatment, affected children rarely live past the age of two.
Is Severe combined immunodeficiency inherited ?
How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes and males have one X chromosome and one Y chromosome. In males, one mutated copy of the responsible gene causes signs and symptoms of the condition because they don't have another X chromosome with a working copy of the gene. In females, having one mutated copy of the gene would make them an unaffected carrier; a mutation would have to occur in both copies of the gene to cause the condition. This is why X-linked recessive disorders, including X-linked SCID, occur much more frequently in males. Because fathers only pass their Y chromosome on to their sons, fathers cannot pass X-linked conditions on to their sons. The other, less common causes of SCID are inherited in an autosomal recessive manner. These types are due to mutations in responsible genes on other chromosomes (not the sex chromosomes). In autosomal recessive conditions, a person must have mutations in both copies of the responsible gene in order to have signs or symptoms of the condition. In most cases, the affected person inherits one mutated copy of the gene from each of the parents, who are typically unaffected carriers.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Severe combined immunodeficiency inherited ? assistant How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes and males have one X chromosome and one Y chromosome. In males, one mutated copy of the responsible gene causes signs and symptoms of the condition because they don't have another X chromosome with a working copy of the gene. In females, having one mutated copy of the gene would make them an unaffected carrier; a mutation would have to occur in both copies of the gene to cause the condition. This is why X-linked recessive disorders, including X-linked SCID, occur much more frequently in males. Because fathers only pass their Y chromosome on to their sons, fathers cannot pass X-linked conditions on to their sons. The other, less common causes of SCID are inherited in an autosomal recessive manner. These types are due to mutations in responsible genes on other chromosomes (not the sex chromosomes). In autosomal recessive conditions, a person must have mutations in both copies of the responsible gene in order to have signs or symptoms of the condition. In most cases, the affected person inherits one mutated copy of the gene from each of the parents, who are typically unaffected carriers.
How to diagnose Severe combined immunodeficiency ?
How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibiotic treatment for two or more months Failure to gain weight or grow normally Infections that require intravenous antibiotic treatment Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver Persistent thrush in the mouth or throat A family history of immune deficiency or infant deaths due to infections Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T cells and antibodies. For further details on diagnosis see the following Web pages: The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID. Click on the embedded link to view the page. An article from Medscape Reference provides detailed information on the diagnosis of SCID. Click on eMedicine Journal to view the page. You may need to register to view the article, but registration is free.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Severe combined immunodeficiency ? assistant How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibiotic treatment for two or more months Failure to gain weight or grow normally Infections that require intravenous antibiotic treatment Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver Persistent thrush in the mouth or throat A family history of immune deficiency or infant deaths due to infections Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T cells and antibodies. For further details on diagnosis see the following Web pages: The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID. Click on the embedded link to view the page. An article from Medscape Reference provides detailed information on the diagnosis of SCID. Click on eMedicine Journal to view the page. You may need to register to view the article, but registration is free.
What are the symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance ?
What are the signs and symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Attention deficit hyperactivity disorder 50% Autism 50% Muscular hypotonia 50% Neurological speech impairment 50% Seizures 50% Strabismus 50% Abnormality of the mouth 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Deeply set eye 7.5% Frontal bossing 7.5% Incoordination 7.5% Long face 7.5% Macrotia 7.5% Ventriculomegaly 7.5% Cerebellar hypoplasia - Delayed speech and language development - Disorganization of the anterior cerebellar vermis - Enlarged cisterna magna - Gait ataxia - Hyperactivity - Hypotelorism - Infantile onset - Intellectual disability - Long nose - Macrocephaly - Mandibular prognathia - Micropenis - Microphallus - Nystagmus - Prominent forehead - Prominent supraorbital ridges - Retrocerebellar cyst - Scrotal hypoplasia - Short philtrum - Spasticity - 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 Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance ? assistant What are the signs and symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Attention deficit hyperactivity disorder 50% Autism 50% Muscular hypotonia 50% Neurological speech impairment 50% Seizures 50% Strabismus 50% Abnormality of the mouth 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Deeply set eye 7.5% Frontal bossing 7.5% Incoordination 7.5% Long face 7.5% Macrotia 7.5% Ventriculomegaly 7.5% Cerebellar hypoplasia - Delayed speech and language development - Disorganization of the anterior cerebellar vermis - Enlarged cisterna magna - Gait ataxia - Hyperactivity - Hypotelorism - Infantile onset - Intellectual disability - Long nose - Macrocephaly - Mandibular prognathia - Micropenis - Microphallus - Nystagmus - Prominent forehead - Prominent supraorbital ridges - Retrocerebellar cyst - Scrotal hypoplasia - Short philtrum - Spasticity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Rutherfurd syndrome ?
What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd 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) Delayed eruption of teeth 90% Gingival overgrowth 90% Opacification of the corneal stroma 90% Reduced number of teeth 90% Behavioral abnormality 50% Cognitive impairment 50% Autosomal dominant inheritance - Corneal dystrophy - Delayed eruption of primary teeth - Failure of eruption of permanent 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 Rutherfurd syndrome ? assistant What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd 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) Delayed eruption of teeth 90% Gingival overgrowth 90% Opacification of the corneal stroma 90% Reduced number of teeth 90% Behavioral abnormality 50% Cognitive impairment 50% Autosomal dominant inheritance - Corneal dystrophy - Delayed eruption of primary teeth - Failure of eruption of permanent 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 is (are) Hereditary sensory and autonomic neuropathy ?
Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function.[9873] HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and 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: What is (are) Hereditary sensory and autonomic neuropathy ? assistant Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function.[9873] HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner.
What is (are) Pulmonary vein stenosis ?
Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Pulmonary vein stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension. Surgery and catheterization to widen the narrow veins is usually a short-term solution since the obstruction typically recurs.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pulmonary vein stenosis ? assistant Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Pulmonary vein stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension. Surgery and catheterization to widen the narrow veins is usually a short-term solution since the obstruction typically recurs.
What are the symptoms of Pulmonary vein stenosis ?
What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 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 Pulmonary vein stenosis ? assistant What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Spondyloepiphyseal dysplasia Maroteaux type ?
Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia. SED Maroteaux type is caused by mutations in the TRPV4 gene and is inherited any an 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) Spondyloepiphyseal dysplasia Maroteaux type ? assistant Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia. SED Maroteaux type is caused by mutations in the TRPV4 gene and is inherited any an autosomal dominant fashion.
What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ?
What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal dominant inheritance - Genu valgum - Platyspondyly - Spondyloepiphyseal dysplasia - 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 Spondyloepiphyseal dysplasia Maroteaux type ? assistant What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal dominant inheritance - Genu valgum - Platyspondyly - Spondyloepiphyseal dysplasia - 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) Vein of Galen aneurysm ?
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Vein of Galen aneurysm ? assistant Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development.
What are the symptoms of Vein of Galen aneurysm ?
What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. 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 cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Vein of Galen aneurysm ? assistant What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. 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 cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ?
What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ? assistant What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Castleman disease ?
Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Castleman disease ? assistant Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.
What causes Castleman disease ?
What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of CD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with multicentric CD, specifically. HHV-8 is found in nearly all people who are HIV-positive and develop multicentric CD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause multicentric CD by making its own IL-6.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Castleman disease ? assistant What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of CD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with multicentric CD, specifically. HHV-8 is found in nearly all people who are HIV-positive and develop multicentric CD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause multicentric CD by making its own IL-6.
Is Castleman disease inherited ?
Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically 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 Castleman disease inherited ? assistant Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition.
What is (are) Generalized pustular psoriasis ?
Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Generalized pustular psoriasis ? assistant Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms.
What are the symptoms of Generalized pustular psoriasis ?
What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. 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) Cholangitis 5% Furrowed tongue 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal recessive inheritance - Erythema - Fever - Parakeratosis - Psoriasis - Pustule - 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 Generalized pustular psoriasis ? assistant What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. 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) Cholangitis 5% Furrowed tongue 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal recessive inheritance - Erythema - Fever - Parakeratosis - Psoriasis - Pustule - 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) Schnitzler syndrome ?
Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Schnitzler syndrome ? assistant Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.
What are the symptoms of Schnitzler syndrome ?
What are the signs and symptoms of Schnitzler syndrome? The signs and symptoms of Schnitzler syndrome vary but may include: Red raised patches of skin (urticaria) that may become itchy Recurrent fevers Join pain and inflammation Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen Bone pain Blood abnormalities Muscle aches Fatigue Weight loss People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Schnitzler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal immunoglobulin level 90% Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Bone pain 90% Hepatomegaly 90% Increased bone mineral density 90% Lymphadenopathy 90% Myalgia 90% Splenomegaly 90% Urticaria 90% Anemia 50% Leukocytosis 50% Lymphoma 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Vasculitis 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 Schnitzler syndrome ? assistant What are the signs and symptoms of Schnitzler syndrome? The signs and symptoms of Schnitzler syndrome vary but may include: Red raised patches of skin (urticaria) that may become itchy Recurrent fevers Join pain and inflammation Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen Bone pain Blood abnormalities Muscle aches Fatigue Weight loss People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Schnitzler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal immunoglobulin level 90% Abnormality of temperature regulation 90% Arthralgia 90% Arthritis 90% Bone pain 90% Hepatomegaly 90% Increased bone mineral density 90% Lymphadenopathy 90% Myalgia 90% Splenomegaly 90% Urticaria 90% Anemia 50% Leukocytosis 50% Lymphoma 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Vasculitis 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 Schnitzler syndrome ?
What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Schnitzler syndrome ? assistant What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.
How to diagnose Schnitzler syndrome ?
How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features. Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. 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 Schnitzler syndrome ? assistant How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features. Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. Please click on the link to access this resource.
What are the treatments for Schnitzler syndrome ?
How might Schnitzler syndrome be treated? The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success: Nonsteroidal anti-inflammatory drugs (NSAIDs) Corticosteroids Immunosuppressive agents Interleukin-1 receptor antagonists (medications that inhibit the cytokine IL-1) Colchicine Dapsone Thalidomide Rituximab Some studies suggest that phototherapy may improve the rash in some affected people. Medscape Reference and the National Organization for Rare Disorders both offer additional information regarding the treatment and management of Schnitzler syndrome. Please click on the links to access these resources.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Schnitzler syndrome ? assistant How might Schnitzler syndrome be treated? The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success: Nonsteroidal anti-inflammatory drugs (NSAIDs) Corticosteroids Immunosuppressive agents Interleukin-1 receptor antagonists (medications that inhibit the cytokine IL-1) Colchicine Dapsone Thalidomide Rituximab Some studies suggest that phototherapy may improve the rash in some affected people. Medscape Reference and the National Organization for Rare Disorders both offer additional information regarding the treatment and management of Schnitzler syndrome. Please click on the links to access these resources.
What is (are) Variant Creutzfeldt-Jakob disease ?
There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Variant Creutzfeldt-Jakob disease ? assistant There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.
What are the symptoms of Athabaskan brainstem dysgenesis ?
What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. 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 brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing 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 Athabaskan brainstem dysgenesis ? assistant What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. 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 brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing 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) Dravet syndrome ?
Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Dravet syndrome ? assistant Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
What are the symptoms of Dravet syndrome ?
What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - 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 Dravet syndrome ? assistant What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - 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) Cat scratch disease ?
Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Cat scratch disease ? assistant Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.
What are the symptoms of Cat scratch disease ?
What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cat scratch disease ? assistant What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.
What is (are) ADCY5-related dyskinesia ?
ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) ADCY5-related dyskinesia ? assistant ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy.
What are the symptoms of ADCY5-related dyskinesia ?
What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - 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 ADCY5-related dyskinesia ? assistant What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - 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 Pillay syndrome ?
What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay 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 bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - 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 Pillay syndrome ? assistant What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay 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 bone mineral density 90% Abnormality of the humerus 90% Aplasia/Hypoplasia of the radius 90% Camptodactyly of finger 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Opacification of the corneal stroma 90% Radioulnar synostosis 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Visual impairment 90% Glaucoma 7.5% Megalocornea 7.5% Abnormality of the thorax - Autosomal dominant inheritance - Blindness - Coxa valga - Decreased mobility 3rd-5th fingers - Fibular hypoplasia - Lateral humeral condyle aplasia - Mesomelia - Radial bowing - Radioulnar dislocation - Temporomandibular joint ankylosis - Ulnar deviated club hands - 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 Familial dilated cardiomyopathy ?
What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. 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) Hypertrophic cardiomyopathy 90% Abnormality of neutrophils 7.5% EMG abnormality 7.5% Lipoatrophy 7.5% Myopathy 7.5% Palmoplantar keratoderma 7.5% Sensorineural hearing 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 Familial dilated cardiomyopathy ? assistant What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. 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) Hypertrophic cardiomyopathy 90% Abnormality of neutrophils 7.5% EMG abnormality 7.5% Lipoatrophy 7.5% Myopathy 7.5% Palmoplantar keratoderma 7.5% Sensorineural hearing impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Congenital central hypoventilation syndrome ?
Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Congenital central hypoventilation syndrome ? assistant Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.
What are the symptoms of Congenital central hypoventilation syndrome ?
What are the signs and symptoms of Congenital central hypoventilation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation 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) Aganglionic megacolon 90% Apnea 90% Respiratory insufficiency 90% Short stature 90% Strabismus 90% Cognitive impairment 50% Muscular hypotonia 50% Seizures 50% Neuroblastoma 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Sensorineural hearing impairment 7.5% Abnormality of temperature regulation - Abnormality of the cardiovascular system - Abnormality of the mouth - Autosomal dominant inheritance - Central hypoventilation - Constipation - Feeding difficulties - Ganglioneuroblastoma - Ganglioneuroma - Hyperhidrosis - Low-set ears - Posteriorly rotated ears - 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 Congenital central hypoventilation syndrome ? assistant What are the signs and symptoms of Congenital central hypoventilation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation 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) Aganglionic megacolon 90% Apnea 90% Respiratory insufficiency 90% Short stature 90% Strabismus 90% Cognitive impairment 50% Muscular hypotonia 50% Seizures 50% Neuroblastoma 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Sensorineural hearing impairment 7.5% Abnormality of temperature regulation - Abnormality of the cardiovascular system - Abnormality of the mouth - Autosomal dominant inheritance - Central hypoventilation - Constipation - Feeding difficulties - Ganglioneuroblastoma - Ganglioneuroma - Hyperhidrosis - Low-set ears - Posteriorly rotated ears - 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 Congenital central hypoventilation syndrome inherited ?
How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CCHS can be complex. Most people with CCHS have a new (de novo) mutation in the responsible gene (the PHOX2B gene). De novo mutations occur for the first time in the affected person and are not inherited from a parent. Some people with CCHS have a parent with the condition, and inherit the mutation from that parent. In some cases, an asymptomatic parent of a person with symptoms has a PHOX2B mutation in some of their germ cells (egg or sperm cells, not body cells). This is called germline mosaicism. Some of these parents also have a PHOX2B mutation in some of their body cells. This is called somatic mosaicism. Germline mosaicism with or without somatic mosaicism is present in about 25% of asymptomatic parents of people with CCHS. Parents with mosaicism should have a comprehensive assessment to determine if any features of CCHS are present. It is also recommended that parents of a person with a presumed de novo mutation have genetic testing for the presence of the mutation, including testing that detects mosaicism at low levels.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Congenital central hypoventilation syndrome inherited ? assistant How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CCHS can be complex. Most people with CCHS have a new (de novo) mutation in the responsible gene (the PHOX2B gene). De novo mutations occur for the first time in the affected person and are not inherited from a parent. Some people with CCHS have a parent with the condition, and inherit the mutation from that parent. In some cases, an asymptomatic parent of a person with symptoms has a PHOX2B mutation in some of their germ cells (egg or sperm cells, not body cells). This is called germline mosaicism. Some of these parents also have a PHOX2B mutation in some of their body cells. This is called somatic mosaicism. Germline mosaicism with or without somatic mosaicism is present in about 25% of asymptomatic parents of people with CCHS. Parents with mosaicism should have a comprehensive assessment to determine if any features of CCHS are present. It is also recommended that parents of a person with a presumed de novo mutation have genetic testing for the presence of the mutation, including testing that detects mosaicism at low levels.
What are the symptoms of Spastic paraplegia 10 ?
What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. 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% Parkinsonism 5% Ankle clonus - Autosomal dominant inheritance - Babinski sign - Distal sensory impairment - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Pes cavus - Phenotypic variability - Progressive - Scoliosis - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spastic paraplegia 10 ? assistant What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. 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% Parkinsonism 5% Ankle clonus - Autosomal dominant inheritance - Babinski sign - Distal sensory impairment - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Pes cavus - Phenotypic variability - Progressive - Scoliosis - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - 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 Familial colorectal cancer ?
What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. 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) Hereditary nonpolyposis colorectal carcinoma - Neoplasm of the stomach - Renal cell carcinoma - Transitional cell carcinoma of the bladder - Uterine leiomyosarcoma - 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 Familial colorectal cancer ? assistant What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. 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) Hereditary nonpolyposis colorectal carcinoma - Neoplasm of the stomach - Renal cell carcinoma - Transitional cell carcinoma of the bladder - Uterine leiomyosarcoma - 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) Peutz-Jeghers syndrome ?
Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Peutz-Jeghers syndrome ? assistant Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers.
What are the symptoms of Peutz-Jeghers syndrome ?
What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - 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 Peutz-Jeghers syndrome ? assistant What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - 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 Peutz-Jeghers syndrome ?
What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Peutz-Jeghers syndrome ? assistant What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.
Is Peutz-Jeghers syndrome inherited ?
Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) 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 PJS 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 Peutz-Jeghers syndrome inherited ? assistant Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) 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 PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How to diagnose Peutz-Jeghers syndrome ?
Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
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system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Peutz-Jeghers syndrome ? assistant Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
What is (are) Pemphigus vulgaris ?
Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknown. It has rarely been observed in multiple members of the same family. Treatment is aimed at reducing symptoms and preventing complications. Severe cases are treated similarly to severe burns.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pemphigus vulgaris ? assistant Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknown. It has rarely been observed in multiple members of the same family. Treatment is aimed at reducing symptoms and preventing complications. Severe cases are treated similarly to severe burns.
What causes Pemphigus vulgaris ?
What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Pemphigus vulgaris ? assistant What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary.
What is (are) Idiopathic neutropenia ?
Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections. Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Idiopathic neutropenia ? assistant Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections. Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required.
What are the symptoms of Idiopathic neutropenia ?
What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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 myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - 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 Idiopathic neutropenia ? assistant What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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 myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - 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) Congenital lobar emphysema ?
Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue, cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Congenital lobar emphysema ? assistant Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue, cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).
What are the symptoms of Congenital lobar emphysema ?
What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. 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) Emphysema 90% Respiratory insufficiency 90% Abnormality of immune system physiology 50% Autosomal dominant inheritance - Bronchial cartilage hypoplasia - Respiratory distress - 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 Congenital lobar emphysema ? assistant What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. 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) Emphysema 90% Respiratory insufficiency 90% Abnormality of immune system physiology 50% Autosomal dominant inheritance - Bronchial cartilage hypoplasia - Respiratory distress - 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 Symphalangism with multiple anomalies of hands and feet ?
What are the signs and symptoms of Symphalangism with multiple anomalies of hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism with multiple anomalies of hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Finger syndactyly 90% Symphalangism affecting the phalanges of the hand 90% Brachydactyly syndrome 50% Macrocephaly 50% Hearing impairment 7.5% Kyphosis 7.5% Tarsal synostosis 7.5% Absent dorsal skin creases over affected joints - Autosomal dominant inheritance - Clinodactyly of the 5th toe - Cutaneous finger syndactyly - Proximal symphalangism (hands) - Reduced proximal interphalangeal joint space - Small hypothenar eminence - Small thenar eminence - Toe syndactyly - 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 Symphalangism with multiple anomalies of hands and feet ? assistant What are the signs and symptoms of Symphalangism with multiple anomalies of hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism with multiple anomalies of hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Finger syndactyly 90% Symphalangism affecting the phalanges of the hand 90% Brachydactyly syndrome 50% Macrocephaly 50% Hearing impairment 7.5% Kyphosis 7.5% Tarsal synostosis 7.5% Absent dorsal skin creases over affected joints - Autosomal dominant inheritance - Clinodactyly of the 5th toe - Cutaneous finger syndactyly - Proximal symphalangism (hands) - Reduced proximal interphalangeal joint space - Small hypothenar eminence - Small thenar eminence - Toe syndactyly - 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 Wells-Jankovic syndrome ?
What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic 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) Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Impaired pain sensation 90% Sensorineural hearing impairment 90% Abnormality of the genital system 50% Opacification of the corneal stroma 50% Short stature 50% Visual impairment 50% Incoordination 7.5% Nystagmus 7.5% Cataract - Hearing impairment - Hypogonadism - Juvenile onset - Spastic paraparesis - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Wells-Jankovic syndrome ? assistant What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic 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) Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Impaired pain sensation 90% Sensorineural hearing impairment 90% Abnormality of the genital system 50% Opacification of the corneal stroma 50% Short stature 50% Visual impairment 50% Incoordination 7.5% Nystagmus 7.5% Cataract - Hearing impairment - Hypogonadism - Juvenile onset - Spastic paraparesis - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Fuhrmann syndrome ?
What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann 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 fibula 90% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - 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 Fuhrmann syndrome ? assistant What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann 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 fibula 90% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - 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) Hallermann-Streiff syndrome ?
Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.
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system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hallermann-Streiff syndrome ? assistant Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.
What are the symptoms of Hallermann-Streiff syndrome ?
What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities. Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Hallermann-Streiff 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 clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - 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 Hallermann-Streiff syndrome ? assistant What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities. Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Hallermann-Streiff 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 clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - 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 Hallermann-Streiff syndrome ?
What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.
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system Answer the question truthfully, you are a medical professional. user This is the question: What causes Hallermann-Streiff syndrome ? assistant What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.
Is Hallermann-Streiff syndrome inherited ?
How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.
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system Answer the question truthfully, you are a medical professional. user This is the question: Is Hallermann-Streiff syndrome inherited ? assistant How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.
How to diagnose Hallermann-Streiff syndrome ?
Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-Streiff syndrome click here. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetics professional to learn more about research 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 Hallermann-Streiff syndrome ? assistant Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-Streiff syndrome click here. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetics professional to learn more about research testing for this condition.
What are the treatments for Hallermann-Streiff syndrome ?
How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention. With respect to dental anomalies, natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as extra teeth and there may be a tendency to extract them. However, the loss of teeth may worsen glossoptosis (posteriorly location of the tongue) or cause other complications. It has thus been recommended to preserve prematurely erupting teeth to facilitate eating until the existence of successional permanent teeth can be confirmed. Ensuring good dental hygiene is also important. Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. For some affected infants and children with heart defects, medical treatment and/or surgical intervention may be recommended.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hallermann-Streiff syndrome ? assistant How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients. Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention. With respect to dental anomalies, natal/neonatal teeth (teeth present at birth) may be incorrectly diagnosed as extra teeth and there may be a tendency to extract them. However, the loss of teeth may worsen glossoptosis (posteriorly location of the tongue) or cause other complications. It has thus been recommended to preserve prematurely erupting teeth to facilitate eating until the existence of successional permanent teeth can be confirmed. Ensuring good dental hygiene is also important. Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly the mandibular and nasal region) at the appropriate age. For some affected infants and children with heart defects, medical treatment and/or surgical intervention may be recommended.
What are the symptoms of Genochondromatosis ?
What are the signs and symptoms of Genochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Genochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the knees 90% Multiple enchondromatosis 90% Abnormality of the skeletal system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Genochondromatosis ? assistant What are the signs and symptoms of Genochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Genochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the knees 90% Multiple enchondromatosis 90% Abnormality of the skeletal system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Pulmonary alveolar microlithiasis ?
Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and 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: What is (are) Pulmonary alveolar microlithiasis ? assistant Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.
What are the symptoms of Pulmonary alveolar microlithiasis ?
What are the signs and symptoms of Pulmonary alveolar microlithiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar microlithiasis. 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 - Intraalveolar nodular calcifications - Onset - Progressive pulmonary function impairment - Restrictive respiratory insufficiency - Slow progression - 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 Pulmonary alveolar microlithiasis ? assistant What are the signs and symptoms of Pulmonary alveolar microlithiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar microlithiasis. 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 - Intraalveolar nodular calcifications - Onset - Progressive pulmonary function impairment - Restrictive respiratory insufficiency - Slow progression - 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) Laing distal myopathy ?
Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an 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) Laing distal myopathy ? assistant Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.
What are the symptoms of Laing distal myopathy ?
What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. 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) Dilated cardiomyopathy 7.5% Proximal muscle weakness 7.5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - 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 Laing distal myopathy ? assistant What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. 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) Dilated cardiomyopathy 7.5% Proximal muscle weakness 7.5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - 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 Deafness-infertility syndrome ?
What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal spermatogenesis - Autosomal recessive inheritance - Bilateral sensorineural hearing impairment - Male infertility - Reduced sperm motility - 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 Deafness-infertility syndrome ? assistant What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal spermatogenesis - Autosomal recessive inheritance - Bilateral sensorineural hearing impairment - Male infertility - Reduced sperm motility - 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 Gingival fibromatosis, 1 ?
What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gingival fibromatosis - 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 Gingival fibromatosis, 1 ? assistant What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gingival fibromatosis - 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) Marden-Walker syndrome ?
Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is 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: What is (are) Marden-Walker syndrome ? assistant Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner.
What are the symptoms of Marden-Walker syndrome ?
What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass. Additional features may include ptosis, arachnodactyly, camptodactyly (an unusual curvature of the fingers), chest deformities, kyphoscoliosis, and absent deep tendon reflexes. Some individuals have renal anomalies, cardiovascular abnormalities or cerebral malformations. Most signs of Marden-Walker syndrome present in the neonatal period. Disease course is characterized by failure to thrive and psychomotor retardation. Mental retardation generally remains severe, whereas contractures are not progressive and decrease with advancing age and physiotherapy. The Human Phenotype Ontology provides the following list of signs and symptoms for Marden-Walker 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) Arachnodactyly 90% Blepharophimosis 90% Cleft palate 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Mask-like facies 90% Microcephaly 90% Muscular hypotonia 90% Narrow mouth 90% Ptosis 90% Radioulnar synostosis 90% Short stature 90% Skeletal muscle atrophy 90% Attention deficit hyperactivity disorder 50% Camptodactyly of finger 50% Intrauterine growth retardation 50% Kyphosis 50% Pectus carinatum 50% Pectus excavatum 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Displacement of the external urethral meatus 7.5% Hydrocephalus 7.5% Multicystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Situs inversus totalis 7.5% Talipes 7.5% Ventricular septal defect 7.5% Abnormality of the sternum - Agenesis of corpus callosum - Anteverted nares - Autosomal recessive inheritance - Camptodactyly - Cerebellar hypoplasia - Congenital contracture - Cryptorchidism - Dandy-Walker malformation - Decreased muscle mass - Dextrocardia - Epicanthus - Fixed facial expression - High palate - Hypertelorism - Hypoplasia of the brainstem - Hypospadias - Inferior vermis hypoplasia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Long philtrum - Low-set ears - Micropenis - Microphthalmia - Postnatal growth retardation - Primitive reflexes (palmomental, snout, glabellar) - Pulmonary hypoplasia - Renal hypoplasia - Seizures - Short neck - Strabismus - Talipes equinovarus - Wide anterior fontanel - Zollinger-Ellison syndrome - 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 Marden-Walker syndrome ? assistant What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass. Additional features may include ptosis, arachnodactyly, camptodactyly (an unusual curvature of the fingers), chest deformities, kyphoscoliosis, and absent deep tendon reflexes. Some individuals have renal anomalies, cardiovascular abnormalities or cerebral malformations. Most signs of Marden-Walker syndrome present in the neonatal period. Disease course is characterized by failure to thrive and psychomotor retardation. Mental retardation generally remains severe, whereas contractures are not progressive and decrease with advancing age and physiotherapy. The Human Phenotype Ontology provides the following list of signs and symptoms for Marden-Walker 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) Arachnodactyly 90% Blepharophimosis 90% Cleft palate 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Mask-like facies 90% Microcephaly 90% Muscular hypotonia 90% Narrow mouth 90% Ptosis 90% Radioulnar synostosis 90% Short stature 90% Skeletal muscle atrophy 90% Attention deficit hyperactivity disorder 50% Camptodactyly of finger 50% Intrauterine growth retardation 50% Kyphosis 50% Pectus carinatum 50% Pectus excavatum 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Displacement of the external urethral meatus 7.5% Hydrocephalus 7.5% Multicystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Situs inversus totalis 7.5% Talipes 7.5% Ventricular septal defect 7.5% Abnormality of the sternum - Agenesis of corpus callosum - Anteverted nares - Autosomal recessive inheritance - Camptodactyly - Cerebellar hypoplasia - Congenital contracture - Cryptorchidism - Dandy-Walker malformation - Decreased muscle mass - Dextrocardia - Epicanthus - Fixed facial expression - High palate - Hypertelorism - Hypoplasia of the brainstem - Hypospadias - Inferior vermis hypoplasia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Long philtrum - Low-set ears - Micropenis - Microphthalmia - Postnatal growth retardation - Primitive reflexes (palmomental, snout, glabellar) - Pulmonary hypoplasia - Renal hypoplasia - Seizures - Short neck - Strabismus - Talipes equinovarus - Wide anterior fontanel - Zollinger-Ellison syndrome - 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.