input
stringlengths 16
191
| output
stringlengths 6
29k
| instruction
stringclasses 1
value | prompt
stringlengths 160
29.2k
|
---|---|---|---|
What are the treatments for Hailey-Hailey disease ? | How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks. Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used. Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms. Cool compresses and dressings may also help. More severe cases may require systemic antibiotics and/or stronger corticosteroid creams. Carbon dioxide laser treatment may be effective for severe forms. In very severe cases, surgery can be performed to remove the affected skin, but skin grafts are usually necessary to repair the wounds. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hailey-Hailey disease ? assistant How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks. Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used. Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms. Cool compresses and dressings may also help. More severe cases may require systemic antibiotics and/or stronger corticosteroid creams. Carbon dioxide laser treatment may be effective for severe forms. In very severe cases, surgery can be performed to remove the affected skin, but skin grafts are usually necessary to repair the wounds. |
What are the symptoms of Dermatoosteolysis Kirghizian type ? | What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian 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) Abnormal diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Dermatoosteolysis Kirghizian type ? assistant What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian 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) Abnormal diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Isolated growth hormone deficiency type 3 ? | What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic otitis media - Conjunctivitis - Delayed skeletal maturation - Diarrhea - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Growth hormone deficiency - Hearing impairment - Meningitis - Panhypogammaglobulinemia - Pneumonia - Prostatitis - Pyoderma - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent urinary tract infections - Septic arthritis - Short stature - Sinusitis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Isolated growth hormone deficiency type 3 ? assistant What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chronic otitis media - Conjunctivitis - Delayed skeletal maturation - Diarrhea - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Growth hormone deficiency - Hearing impairment - Meningitis - Panhypogammaglobulinemia - Pneumonia - Prostatitis - Pyoderma - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent urinary tract infections - Septic arthritis - Short stature - Sinusitis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Esthesioneuroblastoma ? | Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor. | 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) Esthesioneuroblastoma ? assistant Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor. |
What are the symptoms of Esthesioneuroblastoma ? | What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes | 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 Esthesioneuroblastoma ? assistant What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes |
What causes Esthesioneuroblastoma ? | What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Esthesioneuroblastoma ? assistant What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown. |
How to diagnose Esthesioneuroblastoma ? | How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Esthesioneuroblastoma ? assistant How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. |
What are the treatments for Esthesioneuroblastoma ? | How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Esthesioneuroblastoma ? assistant How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy. |
What is (are) Polyembryoma ? | Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. | 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) Polyembryoma ? assistant Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. |
What are the treatments for Polyembryoma ? | How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Polyembryoma ? assistant How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain. |
What is (are) Lattice corneal dystrophy type 3A ? | Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. | 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) Lattice corneal dystrophy type 3A ? assistant Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. |
What are the symptoms of Lattice corneal dystrophy type 3A ? | What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Corneal erosion - Lattice corneal dystrophy - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Lattice corneal dystrophy type 3A ? assistant What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Corneal erosion - Lattice corneal dystrophy - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Neuhauser Eichner Opitz syndrome ? | What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz 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) Hypertonia 90% Incoordination 90% Abnormality of movement 50% Joint hypermobility 50% Babinski sign 30% Behavioral abnormality 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Areflexia - Athetosis - Autosomal dominant inheritance - Choreoathetosis - Dysarthria - Intention tremor - Lethargy - Recurrent encephalopathy - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Neuhauser Eichner Opitz syndrome ? assistant What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz 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) Hypertonia 90% Incoordination 90% Abnormality of movement 50% Joint hypermobility 50% Babinski sign 30% Behavioral abnormality 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Areflexia - Athetosis - Autosomal dominant inheritance - Choreoathetosis - Dysarthria - Intention tremor - Lethargy - Recurrent encephalopathy - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Oto-palato-digital syndrome type 1 ? | What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - 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 Oto-palato-digital syndrome type 1 ? assistant What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - 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. |
What is (are) Liposarcoma ? | Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. | 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) Liposarcoma ? assistant Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. |
What are the treatments for Liposarcoma ? | How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed. If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence). Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas. Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Liposarcoma ? assistant How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed. If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence). Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas. Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs. |
What is (are) Monoclonal mast cell activation syndrome ? | Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change (mutation) in the KIT gene which results in a defect of the mast cells. Treatment may include antihistamines and other medications, as needed. | 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) Monoclonal mast cell activation syndrome ? assistant Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change (mutation) in the KIT gene which results in a defect of the mast cells. Treatment may include antihistamines and other medications, as needed. |
What are the symptoms of Torg Winchester syndrome ? | What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester 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) Arthropathy - Coarse facial features - Corneal opacity - Generalized osteoporosis - Gingival overgrowth - Osteolysis involving bones of the feet - Osteolysis involving bones of the upper limbs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Torg Winchester syndrome ? assistant What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester 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) Arthropathy - Coarse facial features - Corneal opacity - Generalized osteoporosis - Gingival overgrowth - Osteolysis involving bones of the feet - Osteolysis involving bones of the upper limbs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Megalocytic interstitial nephritis ? | Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign substances in an effort to protect the body from infection. | 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) Megalocytic interstitial nephritis ? assistant Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign substances in an effort to protect the body from infection. |
What are the symptoms of Megalocytic interstitial nephritis ? | What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). | 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 Megalocytic interstitial nephritis ? assistant What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). |
What causes Megalocytic interstitial nephritis ? | What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Megalocytic interstitial nephritis ? assistant What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS. |
What is (are) Familial hemiplegic migraine type 1 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different 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: What is (are) Familial hemiplegic migraine type 1 ? assistant Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. |
What are the symptoms of Familial hemiplegic migraine type 1 ? | What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Seizures 5% Tremor 5% Agitation - Anxiety - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Cerebellar atrophy - Coma - Confusion - Drowsiness - Dyscalculia - Dysphasia - Fever - Hemiparesis - Hemiplegia - Heterogeneous - Migraine with aura - Psychosis - Transient unilateral blurring of vision - Visual hallucinations - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 hemiplegic migraine type 1 ? assistant What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Seizures 5% Tremor 5% Agitation - Anxiety - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Cerebellar atrophy - Coma - Confusion - Drowsiness - Dyscalculia - Dysphasia - Fever - Hemiparesis - Hemiplegia - Heterogeneous - Migraine with aura - Psychosis - Transient unilateral blurring of vision - Visual hallucinations - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the treatments for Familial hemiplegic migraine type 1 ? | How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Familial hemiplegic migraine type 1 ? assistant How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider. |
What are the symptoms of Corneal dystrophy and perceptive deafness ? | What are the signs and symptoms of Corneal dystrophy and perceptive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy and perceptive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal dystrophy 90% Opacification of the corneal stroma 90% Sensorineural hearing impairment 90% Visual impairment 90% Nystagmus 50% Autosomal recessive inheritance - 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. | 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 Corneal dystrophy and perceptive deafness ? assistant What are the signs and symptoms of Corneal dystrophy and perceptive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy and perceptive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal dystrophy 90% Opacification of the corneal stroma 90% Sensorineural hearing impairment 90% Visual impairment 90% Nystagmus 50% Autosomal recessive inheritance - 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) Dwarfism ? | Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy. | 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) Dwarfism ? assistant Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy. |
How to diagnose Dwarfism ? | How is dwarfism diagnosed? Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth. Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child's growth, but skeletal dysplasias cannot be "cured." Individuals who are interested in learning whether they or family members have, or are at risk for, dwarfism should speak with their health care provider or a genetics professional. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Dwarfism ? assistant How is dwarfism diagnosed? Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth. Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child's growth, but skeletal dysplasias cannot be "cured." Individuals who are interested in learning whether they or family members have, or are at risk for, dwarfism should speak with their health care provider or a genetics professional. |
What are the symptoms of Spastic paraplegia 4 ? | What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Agitation - Apathy - Autosomal dominant inheritance - Babinski sign - Degeneration of the lateral corticospinal tracts - Dementia - Depression - Disinhibition - Genetic anticipation - Hyperreflexia - Impaired vibration sensation in the lower limbs - Insidious onset - Intellectual disability - Low back pain - Lower limb muscle weakness - Memory impairment - Nystagmus - Paraplegia - Progressive - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spastic paraplegia 4 ? assistant What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Agitation - Apathy - Autosomal dominant inheritance - Babinski sign - Degeneration of the lateral corticospinal tracts - Dementia - Depression - Disinhibition - Genetic anticipation - Hyperreflexia - Impaired vibration sensation in the lower limbs - Insidious onset - Intellectual disability - Low back pain - Lower limb muscle weakness - Memory impairment - Nystagmus - Paraplegia - Progressive - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Selective IgM deficiency ? | Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of other immunoglobulins and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes the isolated deficiency of IgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested to have pneumococcal and meningococcal vaccines, prophylactic antibiotics to patients who have recurrent infections and immune globulin replacement. | 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) Selective IgM deficiency ? assistant Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of other immunoglobulins and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes the isolated deficiency of IgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested to have pneumococcal and meningococcal vaccines, prophylactic antibiotics to patients who have recurrent infections and immune globulin replacement. |
What are the symptoms of Congenital disorder of glycosylation type I/IIX ? | What are the signs and symptoms of Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Infantile spasms - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Congenital disorder of glycosylation type I/IIX ? assistant What are the signs and symptoms of Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Infantile spasms - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Emery-Dreifuss muscular dystrophy, X-linked ? | What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ? assistant What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Marfan syndrome ? | Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive. | 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) Marfan syndrome ? assistant Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive. |
What are the symptoms of Marfan syndrome ? | What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome. Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Marfan 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% Dilatation of the ascending aorta 90% Disproportionate tall stature 90% Muscular hypotonia 90% Pes planus 90% Skeletal muscle atrophy 90% Striae distensae 90% Aneurysm 50% Arthralgia 50% Decreased body weight 50% Dental malocclusion 50% Dural ectasia 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Myopia 50% Narrow face 50% Pectus excavatum 50% Protrusio acetabuli 50% Scoliosis 50% Sleep disturbance 50% Visual impairment 50% Abnormality of the aortic valve 7.5% Abnormality of the endocardium 7.5% Aortic dissection 7.5% Arterial dissection 7.5% Attention deficit hyperactivity disorder 7.5% Chest pain 7.5% Cleft palate 7.5% Congestive heart failure 7.5% Dolichocephaly 7.5% Ectopia lentis 7.5% Flat cornea 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Meningocele 7.5% Myalgia 7.5% Reduced bone mineral density 7.5% Retinal detachment 7.5% Emphysema 5% Esotropia 5% Exotropia 5% Aortic regurgitation - Aortic root dilatation - Ascending aortic aneurysm - Autosomal dominant inheritance - Cataract - Decreased muscle mass - Decreased subcutaneous fat - Deeply set eye - Dental crowding - Flexion contracture - Genu recurvatum - Hammertoe - High palate - Hypoplasia of the iris - Incisional hernia - Increased axial globe length - Kyphoscoliosis - Long face - Malar flattening - Medial rotation of the medial malleolus - Mitral regurgitation - Mitral valve prolapse - Narrow palate - Overgrowth - Pectus carinatum - Pes cavus - Pneumothorax - Premature calcification of mitral annulus - Premature osteoarthritis - Pulmonary artery dilatation - Retrognathia - Spondylolisthesis - Tall stature - Tricuspid valve 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. | 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 Marfan syndrome ? assistant What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome. Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Marfan 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% Dilatation of the ascending aorta 90% Disproportionate tall stature 90% Muscular hypotonia 90% Pes planus 90% Skeletal muscle atrophy 90% Striae distensae 90% Aneurysm 50% Arthralgia 50% Decreased body weight 50% Dental malocclusion 50% Dural ectasia 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Myopia 50% Narrow face 50% Pectus excavatum 50% Protrusio acetabuli 50% Scoliosis 50% Sleep disturbance 50% Visual impairment 50% Abnormality of the aortic valve 7.5% Abnormality of the endocardium 7.5% Aortic dissection 7.5% Arterial dissection 7.5% Attention deficit hyperactivity disorder 7.5% Chest pain 7.5% Cleft palate 7.5% Congestive heart failure 7.5% Dolichocephaly 7.5% Ectopia lentis 7.5% Flat cornea 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Meningocele 7.5% Myalgia 7.5% Reduced bone mineral density 7.5% Retinal detachment 7.5% Emphysema 5% Esotropia 5% Exotropia 5% Aortic regurgitation - Aortic root dilatation - Ascending aortic aneurysm - Autosomal dominant inheritance - Cataract - Decreased muscle mass - Decreased subcutaneous fat - Deeply set eye - Dental crowding - Flexion contracture - Genu recurvatum - Hammertoe - High palate - Hypoplasia of the iris - Incisional hernia - Increased axial globe length - Kyphoscoliosis - Long face - Malar flattening - Medial rotation of the medial malleolus - Mitral regurgitation - Mitral valve prolapse - Narrow palate - Overgrowth - Pectus carinatum - Pes cavus - Pneumothorax - Premature calcification of mitral annulus - Premature osteoarthritis - Pulmonary artery dilatation - Retrognathia - Spondylolisthesis - Tall stature - Tricuspid valve 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. |
Is Marfan syndrome inherited ? | How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent. | 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 Marfan syndrome inherited ? assistant How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent. |
What is (are) Refsum disease, infantile form ? | Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies. IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner. Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible. Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects. | 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) Refsum disease, infantile form ? assistant Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies. IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner. Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible. Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects. |
What are the symptoms of Refsum disease, infantile form ? | What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hepatomegaly 90% Nyctalopia 90% Short stature 90% Skeletal muscle atrophy 90% Visual impairment 90% Behavioral abnormality 50% Hypertonia 50% Incoordination 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Abnormality of epiphysis morphology 7.5% Arrhythmia 7.5% Cataract 7.5% Facial palsy 7.5% Hypertrophic cardiomyopathy 7.5% Ichthyosis 7.5% Optic atrophy 7.5% Seizures 7.5% Abnormal bleeding - Abnormal electroretinogram - Abnormal facial shape - Autosomal recessive inheritance - Congenital onset - Depressed nasal ridge - Failure to thrive - Flat face - Hypocholesterolemia - Hyporeflexia - Intellectual disability - Malar flattening - Osteoporosis - Polyneuropathy - Rod-cone dystrophy - Single transverse palmar crease - Steatorrhea - Very long chain fatty acid accumulation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Refsum disease, infantile form ? assistant What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hepatomegaly 90% Nyctalopia 90% Short stature 90% Skeletal muscle atrophy 90% Visual impairment 90% Behavioral abnormality 50% Hypertonia 50% Incoordination 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Abnormality of epiphysis morphology 7.5% Arrhythmia 7.5% Cataract 7.5% Facial palsy 7.5% Hypertrophic cardiomyopathy 7.5% Ichthyosis 7.5% Optic atrophy 7.5% Seizures 7.5% Abnormal bleeding - Abnormal electroretinogram - Abnormal facial shape - Autosomal recessive inheritance - Congenital onset - Depressed nasal ridge - Failure to thrive - Flat face - Hypocholesterolemia - Hyporeflexia - Intellectual disability - Malar flattening - Osteoporosis - Polyneuropathy - Rod-cone dystrophy - Single transverse palmar crease - Steatorrhea - Very long chain fatty acid accumulation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Autoimmune pancreatitis ? | Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses in the pancreas and other organs. Treatment often involves corticosteroids. The condition may recur following treatment, and require additional 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) Autoimmune pancreatitis ? assistant Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses in the pancreas and other organs. Treatment often involves corticosteroids. The condition may recur following treatment, and require additional therapy. |
What are the symptoms of Brachycephalofrontonasal dysplasia ? | What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Highly arched eyebrow 90% Hypertelorism 90% Long philtrum 90% Prominent nasal bridge 90% Thick eyebrow 90% Thin vermilion border 90% Abnormality of periauricular region 50% Abnormality of the helix 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Finger syndactyly 50% Frontal bossing 50% High anterior hairline 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Round face 50% Shawl scrotum 50% Short nose 50% Short toe 50% Umbilical hernia 50% Abnormal localization of kidney 7.5% Advanced eruption of teeth 7.5% Arrhythmia 7.5% Atria septal defect 7.5% Chin dimple 7.5% Female pseudohermaphroditism 7.5% Omphalocele 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Proptosis 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad palm - Depressed nasal bridge - Prominent forehead - Wide nasal bridge - Widow's peak - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Brachycephalofrontonasal dysplasia ? assistant What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Highly arched eyebrow 90% Hypertelorism 90% Long philtrum 90% Prominent nasal bridge 90% Thick eyebrow 90% Thin vermilion border 90% Abnormality of periauricular region 50% Abnormality of the helix 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Finger syndactyly 50% Frontal bossing 50% High anterior hairline 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Round face 50% Shawl scrotum 50% Short nose 50% Short toe 50% Umbilical hernia 50% Abnormal localization of kidney 7.5% Advanced eruption of teeth 7.5% Arrhythmia 7.5% Atria septal defect 7.5% Chin dimple 7.5% Female pseudohermaphroditism 7.5% Omphalocele 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Proptosis 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad palm - Depressed nasal bridge - Prominent forehead - Wide nasal bridge - Widow's peak - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Camptocormism ? | Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause. | 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) Camptocormism ? assistant Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause. |
What are the symptoms of Bjornstad syndrome ? | What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad 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 eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hypertrichosis 90% Pili torti 90% Sensorineural hearing impairment 90% Alopecia 50% Intellectual disability 5% Anhidrosis - Autosomal recessive inheritance - Brittle hair - Coarse hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypogonadism - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bjornstad syndrome ? assistant What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad 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 eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hypertrichosis 90% Pili torti 90% Sensorineural hearing impairment 90% Alopecia 50% Intellectual disability 5% Anhidrosis - Autosomal recessive inheritance - Brittle hair - Coarse hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypogonadism - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) C syndrome ? | C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 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: What is (are) C syndrome ? assistant C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene. |
What are the symptoms of C syndrome ? | What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C 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) Anteverted nares 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Depressed nasal bridge 90% Epicanthus 90% Female pseudohermaphroditism 90% Gingival overgrowth 90% Hypoplasia of the ear cartilage 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Narrow forehead 90% Short neck 90% Short nose 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Abnormality of immune system physiology 50% Cutis laxa 50% Joint dislocation 50% Limitation of joint mobility 50% Micromelia 50% Muscular hypotonia 50% Pectus excavatum 50% Sacral dimple 50% Seizures 50% Short stature 50% Single transverse palmar crease 50% Strabismus 50% Talipes 50% Thin vermilion border 50% Urogenital fistula 50% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Constipation 7.5% Hand polydactyly 7.5% Multicystic kidney dysplasia 7.5% Omphalocele 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Toe syndactyly 7.5% Accessory oral frenulum - Autosomal recessive inheritance - Clinodactyly - Clitoromegaly - Delayed skeletal maturation - Dislocated radial head - Failure to thrive - Fused sternal ossification centers - Hepatomegaly - High palate - Hip dislocation - Low-set ears - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Posteriorly rotated ears - Radial deviation of finger - Renal cortical cysts - Scoliosis - Short metacarpal - Thick anterior alveolar ridges - Ulnar deviation of finger - Ventricular septal defect - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of C syndrome ? assistant What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C 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) Anteverted nares 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Depressed nasal bridge 90% Epicanthus 90% Female pseudohermaphroditism 90% Gingival overgrowth 90% Hypoplasia of the ear cartilage 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Narrow forehead 90% Short neck 90% Short nose 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Abnormality of immune system physiology 50% Cutis laxa 50% Joint dislocation 50% Limitation of joint mobility 50% Micromelia 50% Muscular hypotonia 50% Pectus excavatum 50% Sacral dimple 50% Seizures 50% Short stature 50% Single transverse palmar crease 50% Strabismus 50% Talipes 50% Thin vermilion border 50% Urogenital fistula 50% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Constipation 7.5% Hand polydactyly 7.5% Multicystic kidney dysplasia 7.5% Omphalocele 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Toe syndactyly 7.5% Accessory oral frenulum - Autosomal recessive inheritance - Clinodactyly - Clitoromegaly - Delayed skeletal maturation - Dislocated radial head - Failure to thrive - Fused sternal ossification centers - Hepatomegaly - High palate - Hip dislocation - Low-set ears - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Posteriorly rotated ears - Radial deviation of finger - Renal cortical cysts - Scoliosis - Short metacarpal - Thick anterior alveolar ridges - Ulnar deviation of finger - Ventricular septal defect - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Keratoderma palmoplantar spastic paralysis ? | What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% EMG abnormality 90% Gait disturbance 90% Muscle weakness 90% Palmoplantar keratoderma 90% Paresthesia 90% Pes cavus 90% Hemiplegia/hemiparesis 50% Hypertonia 50% Autosomal dominant inheritance - Heterogeneous - Motor axonal neuropathy - Nail dysplasia - Nail dystrophy - Sensory axonal neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Keratoderma palmoplantar spastic paralysis ? assistant What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% EMG abnormality 90% Gait disturbance 90% Muscle weakness 90% Palmoplantar keratoderma 90% Paresthesia 90% Pes cavus 90% Hemiplegia/hemiparesis 50% Hypertonia 50% Autosomal dominant inheritance - Heterogeneous - Motor axonal neuropathy - Nail dysplasia - Nail dystrophy - Sensory axonal neuropathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Weissenbacher-Zweymuller syndrome ? | What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller 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 pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - 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. | 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 Weissenbacher-Zweymuller syndrome ? assistant What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller 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 pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - 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) Juvenile-onset dystonia ? | Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases. Changes (mutations) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition. Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. | 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) Juvenile-onset dystonia ? assistant Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases. Changes (mutations) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition. Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. |
What are the symptoms of Juvenile-onset dystonia ? | What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Abnormality of the hip bone 90% Abnormality of the tongue 90% Cognitive impairment 90% Developmental regression 90% Feeding difficulties in infancy 90% Gastrointestinal dysmotility 90% High forehead 90% Hypertelorism 90% Kyphosis 90% Micromelia 90% Oral cleft 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Sprengel anomaly 90% Cataract 50% Visual impairment 50% Achalasia - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Externally rotated hips - Generalized dystonia - Hypoplastic scapulae - Intellectual disability, mild - Kyphoscoliosis - Mild global developmental delay - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Juvenile-onset dystonia ? assistant What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Abnormality of the hip bone 90% Abnormality of the tongue 90% Cognitive impairment 90% Developmental regression 90% Feeding difficulties in infancy 90% Gastrointestinal dysmotility 90% High forehead 90% Hypertelorism 90% Kyphosis 90% Micromelia 90% Oral cleft 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Sprengel anomaly 90% Cataract 50% Visual impairment 50% Achalasia - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Externally rotated hips - Generalized dystonia - Hypoplastic scapulae - Intellectual disability, mild - Kyphoscoliosis - Mild global developmental delay - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Familial hemiplegic migraine ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different 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: What is (are) Familial hemiplegic migraine ? assistant Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. |
What are the symptoms of Familial hemiplegic migraine ? | What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 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. | 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 hemiplegic migraine ? assistant What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 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 are the symptoms of Congenital generalized lipodystrophy type 2 ? | What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Congenital onset - Cystic angiomatosis of bone - Decreased fertility - Decreased fertility in females - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Hypertrophic cardiomyopathy - Insulin-resistant diabetes mellitus at puberty - Intellectual disability, mild - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Congenital generalized lipodystrophy type 2 ? assistant What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Congenital onset - Cystic angiomatosis of bone - Decreased fertility - Decreased fertility in females - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Hypertrophic cardiomyopathy - Insulin-resistant diabetes mellitus at puberty - Intellectual disability, mild - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Huntington disease ? | Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by changes (mutations) in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications. There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. | 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) Huntington disease ? assistant Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by changes (mutations) in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications. There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. |
What are the symptoms of Huntington disease ? | What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavioral disturbances Clumsiness Moodiness Irritability Paranoia Apathy Anxiety Hallucinations Abnormal eye movements Depression Impaired ability to detect odors Middle stage: Dystonia Involuntary movements Trouble with balance and walking Chorea with twisting and writhing motions Unsteady gait (style of walking) Slow reaction time General weakness Weight loss Speech difficulties Stubbornness Late stage: Rigidity (continual tension of the muscles) Bradykinesia (difficulty initiating and continuing movements) Severe chorea Serious weight loss Inability to speak Inability to walk Swallowing problems Inability to care for oneself There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. The Human Phenotype Ontology provides the following list of signs and symptoms for Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Huntington disease ? assistant What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavioral disturbances Clumsiness Moodiness Irritability Paranoia Apathy Anxiety Hallucinations Abnormal eye movements Depression Impaired ability to detect odors Middle stage: Dystonia Involuntary movements Trouble with balance and walking Chorea with twisting and writhing motions Unsteady gait (style of walking) Slow reaction time General weakness Weight loss Speech difficulties Stubbornness Late stage: Rigidity (continual tension of the muscles) Bradykinesia (difficulty initiating and continuing movements) Severe chorea Serious weight loss Inability to speak Inability to walk Swallowing problems Inability to care for oneself There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. The Human Phenotype Ontology provides the following list of signs and symptoms for Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Huntington disease ? | What causes Huntington disease? Huntington disease (HD) is caused by a change (mutation) in the HTT gene. This gene gives instructions for making a protein called huntingtin. The exact function of this protein is unclear, but it appears to be important to nerve cells (neurons) in the brain. The HTT gene mutation that causes HD involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of three DNA building blocks that repeat multiple times in a row. The CAG segment in a normal HTT gene repeats about 10 to 35 times. In people with HD, it may repeat from 36 to over 120 times. People with 36 to 39 CAG repeats (an intermediate size) may or may not develop HD, while people with 40 or more repeats almost always develop HD. An increased number of CAG repeats leads to an abnormally long version of the huntingtin protein. The long protein is then cut into smaller, toxic pieces that end up sticking together and accumulating in neurons. This disrupts the function of the neurons, ultimately causing the features of HD. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Huntington disease ? assistant What causes Huntington disease? Huntington disease (HD) is caused by a change (mutation) in the HTT gene. This gene gives instructions for making a protein called huntingtin. The exact function of this protein is unclear, but it appears to be important to nerve cells (neurons) in the brain. The HTT gene mutation that causes HD involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of three DNA building blocks that repeat multiple times in a row. The CAG segment in a normal HTT gene repeats about 10 to 35 times. In people with HD, it may repeat from 36 to over 120 times. People with 36 to 39 CAG repeats (an intermediate size) may or may not develop HD, while people with 40 or more repeats almost always develop HD. An increased number of CAG repeats leads to an abnormally long version of the huntingtin protein. The long protein is then cut into smaller, toxic pieces that end up sticking together and accumulating in neurons. This disrupts the function of the neurons, ultimately causing the features of HD. |
Is Huntington disease inherited ? | How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and develop the condition. Most people with HD have an affected parent. The family history can sometimes appear negative for various reasons even though a parent carries, or carried, a mutation in the HTT gene. In rare cases, HD is caused by a new (de novo) mutation in the HTT gene, in which case the disease occurs for the first time in the affected person and is not inherited from a parent. As HD is passed through generations, the size of the mutation in the HTT gene (called a trinucleotide repeat) often increases. A longer repeat in the HTT gene may cause earlier onset of symptoms. This phenomenon is called anticipation. | 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 Huntington disease inherited ? assistant How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and develop the condition. Most people with HD have an affected parent. The family history can sometimes appear negative for various reasons even though a parent carries, or carried, a mutation in the HTT gene. In rare cases, HD is caused by a new (de novo) mutation in the HTT gene, in which case the disease occurs for the first time in the affected person and is not inherited from a parent. As HD is passed through generations, the size of the mutation in the HTT gene (called a trinucleotide repeat) often increases. A longer repeat in the HTT gene may cause earlier onset of symptoms. This phenomenon is called anticipation. |
How to diagnose Huntington disease ? | Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly important because there is currently no cure. Furthermore, predictive testing cannot accurately predict the age a person with an HD mutation will develop symptoms, the severity or type of symptoms they will experience, or the future rate of disease progression. A person may want to have predictive testing because they feel they need to know, or to make personal decisions involving having children, finances, and/or career planning. Other people decide they do not want to know whether they will develop HD. Testing is appropriate to consider in symptomatic people of any age in a family with a confirmed diagnosis of HD. However, testing of asymptomatic people younger than age 18 is not considered appropriate. A main reason is that it takes away the choice of whether the person wants to know, while there is no major benefit to knowing at that age. People who are interested in learning more about genetic testing for HD should speak with a genetics professional. How is Huntington disease diagnosed? A diagnosis of Huntington disease is typically suspected in people with characteristic signs and symptoms of the condition and a family history consistent with autosomal dominant inheritance. The diagnosis can then be confirmed with genetic testing that identifies a specific type of change (mutation) in the HTT 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: How to diagnose Huntington disease ? assistant Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly important because there is currently no cure. Furthermore, predictive testing cannot accurately predict the age a person with an HD mutation will develop symptoms, the severity or type of symptoms they will experience, or the future rate of disease progression. A person may want to have predictive testing because they feel they need to know, or to make personal decisions involving having children, finances, and/or career planning. Other people decide they do not want to know whether they will develop HD. Testing is appropriate to consider in symptomatic people of any age in a family with a confirmed diagnosis of HD. However, testing of asymptomatic people younger than age 18 is not considered appropriate. A main reason is that it takes away the choice of whether the person wants to know, while there is no major benefit to knowing at that age. People who are interested in learning more about genetic testing for HD should speak with a genetics professional. How is Huntington disease diagnosed? A diagnosis of Huntington disease is typically suspected in people with characteristic signs and symptoms of the condition and a family history consistent with autosomal dominant inheritance. The diagnosis can then be confirmed with genetic testing that identifies a specific type of change (mutation) in the HTT gene. |
What are the treatments for Huntington disease ? | How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. Current treatment strategies involve the use of various medications to treat specific symptoms such as abnormal movements and behaviors. Depression and suicide are more common among affected people, so caregivers should monitor for associated symptoms and seek help if necessary. As symptoms of the disease worsen, affected people need more assistance, supervision, and care. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Huntington disease ? assistant How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. Current treatment strategies involve the use of various medications to treat specific symptoms such as abnormal movements and behaviors. Depression and suicide are more common among affected people, so caregivers should monitor for associated symptoms and seek help if necessary. As symptoms of the disease worsen, affected people need more assistance, supervision, and care. |
What are the symptoms of 49,XXXXX syndrome ? | What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the nose 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hypertelorism 50% Microcephaly 50% Plagiocephaly 50% Radioulnar synostosis 50% Short foot 50% Short palm 50% Short stature 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Patent ductus arteriosus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of 49,XXXXX syndrome ? assistant What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the nose 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hypertelorism 50% Microcephaly 50% Plagiocephaly 50% Radioulnar synostosis 50% Short foot 50% Short palm 50% Short stature 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Patent ductus arteriosus 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) Down syndrome ? | Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. Treatment focuses on the specific symptoms in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Down syndrome ? assistant Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. Treatment focuses on the specific symptoms in each person. |
What are the symptoms of Down syndrome ? | What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a higher incidence of pneumonia in children with Down syndrome than in the general population. Children with Down syndrome have developmental delay. They are often slow to turn over, sit, and stand. Developmental delay may be related to the child's weak muscle tone. Development of speech and language may also take longer than expected. Children with Down syndrome may take longer than other children to reach their developmental milestones, but many of these milestones will eventually be met. Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50. The Human Phenotype Ontology provides the following list of signs and symptoms for Down 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) Acute megakaryocytic leukemia - Aganglionic megacolon - Anal atresia - Atlantoaxial instability - Brachycephaly - Broad palm - Brushfield spots - Complete atrioventricular canal defect - Conductive hearing impairment - Duodenal stenosis - Epicanthus - Flat face - Hypoplastic iliac wing - Hypothyroidism - Intellectual disability - Joint laxity - Macroglossia - Malar flattening - Microtia - Muscular hypotonia - Myeloproliferative disorder - Protruding tongue - Shallow acetabular fossae - Short middle phalanx of the 5th finger - Short palm - Short stature - Single transverse palmar crease - Sporadic - Thickened nuchal skin fold - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Down syndrome ? assistant What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a higher incidence of pneumonia in children with Down syndrome than in the general population. Children with Down syndrome have developmental delay. They are often slow to turn over, sit, and stand. Developmental delay may be related to the child's weak muscle tone. Development of speech and language may also take longer than expected. Children with Down syndrome may take longer than other children to reach their developmental milestones, but many of these milestones will eventually be met. Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50. The Human Phenotype Ontology provides the following list of signs and symptoms for Down 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) Acute megakaryocytic leukemia - Aganglionic megacolon - Anal atresia - Atlantoaxial instability - Brachycephaly - Broad palm - Brushfield spots - Complete atrioventricular canal defect - Conductive hearing impairment - Duodenal stenosis - Epicanthus - Flat face - Hypoplastic iliac wing - Hypothyroidism - Intellectual disability - Joint laxity - Macroglossia - Malar flattening - Microtia - Muscular hypotonia - Myeloproliferative disorder - Protruding tongue - Shallow acetabular fossae - Short middle phalanx of the 5th finger - Short palm - Short stature - Single transverse palmar crease - Sporadic - Thickened nuchal skin fold - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Down syndrome ? | What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunction." When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. Mosaic trisomy 21. In about 1-2% of cases, only some of the cells in a person's body have an extra chromosome 21; this is called "mosaic trisomy 21". In this situation, the fertilized egg may have the right number of chromosomes, but due to a cell division error early in the development of the embryo, some cells "acquire" an extra chromosome 21. A person with mosaic trisomy 21 typically has 46 chromosomes in some cells, and 47 chromosomes (with the extra chromosome 21) in others. The features and severity in people with mosaic trisomy 21 may vary widely. Translocation trisomy 21. About 3-4% of people with Down syndrome have cells that contain 46 chromosomes; however, there is extra chromosome 21 material attached (translocated ) onto another chromosome. For parents of a child with Down syndrome due to a translocation, there may be an increased chance of Down syndrome in future pregnancies. This is because one of the two parents may be a carrier of a balanced translocation. However, not all parents of people with translocation trisomy 21 have a translocation. Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Down syndrome ? assistant What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunction." When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. Mosaic trisomy 21. In about 1-2% of cases, only some of the cells in a person's body have an extra chromosome 21; this is called "mosaic trisomy 21". In this situation, the fertilized egg may have the right number of chromosomes, but due to a cell division error early in the development of the embryo, some cells "acquire" an extra chromosome 21. A person with mosaic trisomy 21 typically has 46 chromosomes in some cells, and 47 chromosomes (with the extra chromosome 21) in others. The features and severity in people with mosaic trisomy 21 may vary widely. Translocation trisomy 21. About 3-4% of people with Down syndrome have cells that contain 46 chromosomes; however, there is extra chromosome 21 material attached (translocated ) onto another chromosome. For parents of a child with Down syndrome due to a translocation, there may be an increased chance of Down syndrome in future pregnancies. This is because one of the two parents may be a carrier of a balanced translocation. However, not all parents of people with translocation trisomy 21 have a translocation. Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome. |
How to diagnose Down syndrome ? | How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the likelihood that a fetus has Down syndrome. It may show that a fetus is at an increased risk to be affected, but cannot determine whether it is definitely affected. Screening tests for Down syndrome may involve different types of blood tests for the mother and/or specific types of ultrasounds that can detect features more common in fetuses with Down syndrome (called markers). Depending on the type of screening tests a woman has, they may be done during the 1st trimester, the 2nd trimester, or both. If a screening test shows an increased risk for Down syndrome, a woman may then choose to have a diagnostic test. Diagnostic tests during pregnancy can determine with certainty whether a fetus has Down syndrome, but they are invasive and carry a slight risk of miscarriage. Examples of diagnostic tests include chorionic villus sampling in the 1st trimester and amniocentesis in the 2nd trimester. During these tests, a small sample of genetic material is obtained from the amniotic fluid or placenta, and the fetus' chromosomes are then analyzed in a laboratory. In recent years, non-invasive prenatal testing (NIPT) has become available to women who are at increased risk to have a baby with Down syndrome. NIPT is a blood test that examines DNA from the fetus in the mother's bloodstream. However, women who have a positive NIPT result should then have invasive diagnostic testing to confirm the result. People with questions about the different options for prenatal screening or diagnostic testing should speak with a genetic counselor. A genetic counselor can discuss the benefits, limitations and risks of each test, and help each person decide which test (if any) is best for them. If a diagnosis of Down syndrome is not made prenatally, the diagnosis can be made in the newborn. Down syndrome may be suspected if a newborn has characteristic physical features of the condition. The diagnosis can then be confirmed by obtaining a karyotype (a blood test to look at a picture of the newborn's chromosomes). | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Down syndrome ? assistant How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the likelihood that a fetus has Down syndrome. It may show that a fetus is at an increased risk to be affected, but cannot determine whether it is definitely affected. Screening tests for Down syndrome may involve different types of blood tests for the mother and/or specific types of ultrasounds that can detect features more common in fetuses with Down syndrome (called markers). Depending on the type of screening tests a woman has, they may be done during the 1st trimester, the 2nd trimester, or both. If a screening test shows an increased risk for Down syndrome, a woman may then choose to have a diagnostic test. Diagnostic tests during pregnancy can determine with certainty whether a fetus has Down syndrome, but they are invasive and carry a slight risk of miscarriage. Examples of diagnostic tests include chorionic villus sampling in the 1st trimester and amniocentesis in the 2nd trimester. During these tests, a small sample of genetic material is obtained from the amniotic fluid or placenta, and the fetus' chromosomes are then analyzed in a laboratory. In recent years, non-invasive prenatal testing (NIPT) has become available to women who are at increased risk to have a baby with Down syndrome. NIPT is a blood test that examines DNA from the fetus in the mother's bloodstream. However, women who have a positive NIPT result should then have invasive diagnostic testing to confirm the result. People with questions about the different options for prenatal screening or diagnostic testing should speak with a genetic counselor. A genetic counselor can discuss the benefits, limitations and risks of each test, and help each person decide which test (if any) is best for them. If a diagnosis of Down syndrome is not made prenatally, the diagnosis can be made in the newborn. Down syndrome may be suspected if a newborn has characteristic physical features of the condition. The diagnosis can then be confirmed by obtaining a karyotype (a blood test to look at a picture of the newborn's chromosomes). |
What are the treatments for Down syndrome ? | How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improving learning, memory, and speech. Other treatments depend on the specific health problems or complications present in each affected person. The Research Down syndrome Foundation have a webpage with information about active reseach projects. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Down syndrome ? assistant How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improving learning, memory, and speech. Other treatments depend on the specific health problems or complications present in each affected person. The Research Down syndrome Foundation have a webpage with information about active reseach projects. |
What is (are) Hypoplastic right heart syndrome ? | Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart. | 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) Hypoplastic right heart syndrome ? assistant Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart. |
What are the symptoms of Keratosis, seborrheic ? | What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Verrucae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Keratosis, seborrheic ? assistant What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Verrucae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Trichothiodystrophy nonphotosensitive ? | What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Trichothiodystrophy nonphotosensitive ? assistant What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Brittle cornea syndrome ? | Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive 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) Brittle cornea syndrome ? assistant Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. |
What are the symptoms of Brittle cornea syndrome ? | What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea 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) Corneal dystrophy 90% Decreased corneal thickness 90% Myopia 90% Atypical scarring of skin 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Gait disturbance 50% Joint hypermobility 50% Myalgia 50% Reduced bone mineral density 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormality of epiphysis morphology 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the teeth 7.5% Cleft palate 7.5% Corneal erosion 7.5% Glaucoma 7.5% Hernia 7.5% Recurrent fractures 7.5% Retinal detachment 7.5% Scoliosis 7.5% Flat cornea 5% Inguinal hernia 5% Megalocornea 5% Sclerocornea 5% Umbilical hernia 5% Autosomal recessive inheritance - Congenital hip dislocation - Dentinogenesis imperfecta - Disproportionate tall stature - Epicanthus - Hearing impairment - Joint laxity - Keratoconus - Keratoglobus - Macrocephaly - Mitral valve prolapse - Molluscoid pseudotumors - Palmoplantar cutis laxa - Red hair - Spondylolisthesis - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Brittle cornea syndrome ? assistant What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea 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) Corneal dystrophy 90% Decreased corneal thickness 90% Myopia 90% Atypical scarring of skin 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Gait disturbance 50% Joint hypermobility 50% Myalgia 50% Reduced bone mineral density 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormality of epiphysis morphology 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the teeth 7.5% Cleft palate 7.5% Corneal erosion 7.5% Glaucoma 7.5% Hernia 7.5% Recurrent fractures 7.5% Retinal detachment 7.5% Scoliosis 7.5% Flat cornea 5% Inguinal hernia 5% Megalocornea 5% Sclerocornea 5% Umbilical hernia 5% Autosomal recessive inheritance - Congenital hip dislocation - Dentinogenesis imperfecta - Disproportionate tall stature - Epicanthus - Hearing impairment - Joint laxity - Keratoconus - Keratoglobus - Macrocephaly - Mitral valve prolapse - Molluscoid pseudotumors - Palmoplantar cutis laxa - Red hair - Spondylolisthesis - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Megalocornea-intellectual disability syndrome ? | What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-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 immune system physiology 90% Cognitive impairment 90% Frontal bossing 90% Megalocornea 90% Muscular hypotonia 90% Neurological speech impairment 90% Abnormality of the anterior chamber 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the iris 50% Epicanthus 50% Genu varum 50% Hypertelorism 50% Joint hypermobility 50% Kyphosis 50% Myopia 50% Open mouth 50% Scoliosis 50% Seizures 50% Short stature 50% Stereotypic behavior 50% Talipes 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of lipid metabolism 7.5% Abnormality of the pinna 7.5% Astigmatism 7.5% EEG abnormality 7.5% Hypothyroidism 7.5% Incoordination 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Reduced bone mineral density 7.5% Sensorineural hearing impairment 7.5% Short philtrum 7.5% Underdeveloped supraorbital ridges 7.5% Hypercholesterolemia 5% Osteopenia 5% Arachnodactyly - Ataxia - Autosomal recessive inheritance - Cupped ear - Delayed CNS myelination - Depressed nasal bridge - Dysphagia - Genu recurvatum - Genu valgum - High palate - Hypoplasia of the iris - Intellectual disability - Iridodonesis - Large fleshy ears - Long philtrum - Low anterior hairline - Pes planus - Poor coordination - Primary hypothyroidism - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Megalocornea-intellectual disability syndrome ? assistant What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-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 immune system physiology 90% Cognitive impairment 90% Frontal bossing 90% Megalocornea 90% Muscular hypotonia 90% Neurological speech impairment 90% Abnormality of the anterior chamber 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the iris 50% Epicanthus 50% Genu varum 50% Hypertelorism 50% Joint hypermobility 50% Kyphosis 50% Myopia 50% Open mouth 50% Scoliosis 50% Seizures 50% Short stature 50% Stereotypic behavior 50% Talipes 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of lipid metabolism 7.5% Abnormality of the pinna 7.5% Astigmatism 7.5% EEG abnormality 7.5% Hypothyroidism 7.5% Incoordination 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Reduced bone mineral density 7.5% Sensorineural hearing impairment 7.5% Short philtrum 7.5% Underdeveloped supraorbital ridges 7.5% Hypercholesterolemia 5% Osteopenia 5% Arachnodactyly - Ataxia - Autosomal recessive inheritance - Cupped ear - Delayed CNS myelination - Depressed nasal bridge - Dysphagia - Genu recurvatum - Genu valgum - High palate - Hypoplasia of the iris - Intellectual disability - Iridodonesis - Large fleshy ears - Long philtrum - Low anterior hairline - Pes planus - Poor coordination - Primary hypothyroidism - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ? | What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Ichthyosis 90% Neurological speech impairment 90% Gait disturbance 50% Autosomal recessive inheritance - Ectropion - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Ichthyosis alopecia eclabion ectropion mental retardation ? assistant What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Ichthyosis 90% Neurological speech impairment 90% Gait disturbance 50% Autosomal recessive inheritance - Ectropion - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Facial ectodermal dysplasia ? | What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the skin 90% Chin dimple 90% Depressed nasal ridge 90% Downturned corners of mouth 90% Prematurely aged appearance 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the eyelashes 50% Abnormality of the upper urinary tract 50% Epicanthus 50% Highly arched eyebrow 50% Short philtrum 50% Sparse lateral eyebrow 50% Urogenital fistula 50% Cafe-au-lait spot 7.5% Hypopigmented skin patches 7.5% Lacrimation abnormality 7.5% Strabismus 7.5% Absent eyelashes - Aged leonine appearance - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Depressed nasal bridge - Ectodermal dysplasia - Multiple rows of eyelashes - Periorbital fullness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Facial ectodermal dysplasia ? assistant What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the skin 90% Chin dimple 90% Depressed nasal ridge 90% Downturned corners of mouth 90% Prematurely aged appearance 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the eyelashes 50% Abnormality of the upper urinary tract 50% Epicanthus 50% Highly arched eyebrow 50% Short philtrum 50% Sparse lateral eyebrow 50% Urogenital fistula 50% Cafe-au-lait spot 7.5% Hypopigmented skin patches 7.5% Lacrimation abnormality 7.5% Strabismus 7.5% Absent eyelashes - Aged leonine appearance - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Depressed nasal bridge - Ectodermal dysplasia - Multiple rows of eyelashes - Periorbital fullness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 endotheliopathy, retinopathy, nephropathy, and stroke ? | Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 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: What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? assistant Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene. |
What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals. Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? assistant What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals. Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? | How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 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 Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? assistant How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene. |
What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain). | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? assistant How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain). |
What is (are) MYH7-related scapuloperoneal myopathy ? | MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive. | 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) MYH7-related scapuloperoneal myopathy ? assistant MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive. |
What are the symptoms of MYH7-related scapuloperoneal myopathy ? | What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal 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) Autosomal dominant inheritance - EMG: myopathic abnormalities - Scapuloperoneal myopathy - Slow progression - Weakness of facial musculature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 MYH7-related scapuloperoneal myopathy ? assistant What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal 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) Autosomal dominant inheritance - EMG: myopathic abnormalities - Scapuloperoneal myopathy - Slow progression - Weakness of facial musculature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 MYH7-related scapuloperoneal myopathy ? | What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes MYH7-related scapuloperoneal myopathy ? assistant What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers. |
What are the treatments for MYH7-related scapuloperoneal myopathy ? | How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for MYH7-related scapuloperoneal myopathy ? assistant How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises. |
What is (are) Jones syndrome ? | Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported. | 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) Jones syndrome ? assistant Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported. |
What are the symptoms of Jones syndrome ? | What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears). Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes. The Human Phenotype Ontology provides the following list of signs and symptoms for Jones 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% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Gingival fibromatosis - Progressive 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. | 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 Jones syndrome ? assistant What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears). Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes. The Human Phenotype Ontology provides the following list of signs and symptoms for Jones 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% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Gingival fibromatosis - Progressive 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 causes Jones syndrome ? | What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Jones syndrome ? assistant What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known. |
Is Jones syndrome inherited ? | How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. | 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 Jones syndrome inherited ? assistant How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. |
What are the treatments for Jones syndrome ? | How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Jones syndrome ? assistant How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss. |
What are the symptoms of ABCD syndrome ? | What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD 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 auditory evoked potentials - Aganglionic megacolon - Albinism - Autosomal recessive inheritance - Hearing impairment - Hypopigmentation of the fundus - Large for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of ABCD syndrome ? assistant What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD 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 auditory evoked potentials - Aganglionic megacolon - Albinism - Autosomal recessive inheritance - Hearing impairment - Hypopigmentation of the fundus - Large for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Congenital adrenal hyperplasia ? | Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery. | 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) Congenital adrenal hyperplasia ? assistant Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery. |
What are the symptoms of Congenital adrenal hyperplasia ? | What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genitalia, which often allows the condition to be diagnosed before other associated health problems such as poor feeding, vomiting, dehydration, and abnormal heart beat, can develop. Males typically appear unaffected at birth even when they have a severe form of CAH and without proper diagnosis, will develop associated health problems within 2-3 weeks after birth. Both genders can experience other symptoms such as early onset of puberty, fast body growth, and premature completion of growth leading to short stature, if they are not treated in early life. People affected by milder forms may not have any signs and symptoms of CAH during childhood. In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne. There are two main types of CAH: classic CAH, the more severe form, and a milder form called nonclassic CAH. For a detailed description of the signs and symptoms found in each type of CAH, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Accelerated skeletal maturation 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Female pseudohermaphroditism 90% Hypercortisolism 90% Abnormality of the thorax - Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Fever - Growth abnormality - Gynecomastia - Hyperpigmentation of the skin - Hypertension - Hypoglycemia - Hypokalemia - Hypokalemic alkalosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypospadias - Long penis - Male pseudohermaphroditism - Neonatal onset - Precocious puberty in males - Primary amenorrhea - Renal salt wasting - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Congenital adrenal hyperplasia ? assistant What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genitalia, which often allows the condition to be diagnosed before other associated health problems such as poor feeding, vomiting, dehydration, and abnormal heart beat, can develop. Males typically appear unaffected at birth even when they have a severe form of CAH and without proper diagnosis, will develop associated health problems within 2-3 weeks after birth. Both genders can experience other symptoms such as early onset of puberty, fast body growth, and premature completion of growth leading to short stature, if they are not treated in early life. People affected by milder forms may not have any signs and symptoms of CAH during childhood. In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne. There are two main types of CAH: classic CAH, the more severe form, and a milder form called nonclassic CAH. For a detailed description of the signs and symptoms found in each type of CAH, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Accelerated skeletal maturation 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Female pseudohermaphroditism 90% Hypercortisolism 90% Abnormality of the thorax - Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Fever - Growth abnormality - Gynecomastia - Hyperpigmentation of the skin - Hypertension - Hypoglycemia - Hypokalemia - Hypokalemic alkalosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypospadias - Long penis - Male pseudohermaphroditism - Neonatal onset - Precocious puberty in males - Primary amenorrhea - Renal salt wasting - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Congenital adrenal hyperplasia ? | What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Congenital adrenal hyperplasia ? assistant What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH. |
Is Congenital adrenal hyperplasia inherited ? | How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be 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 Congenital adrenal hyperplasia inherited ? assistant How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
How to diagnose Congenital adrenal hyperplasia ? | Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are 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 congenital adrenal hyperplasia diagnosed? Shortly after birth, all newborns in the United States are screened for a variety of conditions, including 21-hydroxylase deficiency. This is the most common cause of congenital adrenal hyperplasia (CAH) and accounts for 95% of classic CAH cases. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. In these cases, a diagnosis of CAH is usually based on physical examination; blood and urine tests that measure hormone levels; and/or genetic testing. An X-ray may also be helpful in confirming the diagnosis in children since CAH can cause bones to grow and develop more quickly than usual (advanced bone age) . | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Congenital adrenal hyperplasia ? assistant Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are 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 congenital adrenal hyperplasia diagnosed? Shortly after birth, all newborns in the United States are screened for a variety of conditions, including 21-hydroxylase deficiency. This is the most common cause of congenital adrenal hyperplasia (CAH) and accounts for 95% of classic CAH cases. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. In these cases, a diagnosis of CAH is usually based on physical examination; blood and urine tests that measure hormone levels; and/or genetic testing. An X-ray may also be helpful in confirming the diagnosis in children since CAH can cause bones to grow and develop more quickly than usual (advanced bone age) . |
What are the treatments for Congenital adrenal hyperplasia ? | How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness. Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female. For more information on the treatment of CAH, please click here. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Congenital adrenal hyperplasia ? assistant How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness. Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female. For more information on the treatment of CAH, please click here. |
What is (are) Myelodysplastic/myeloproliferative disease ? | Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care. | 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) Myelodysplastic/myeloproliferative disease ? assistant Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care. |
What causes Myelodysplastic/myeloproliferative disease ? | What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic leukemia (CMML) is unknown, but exposure to occupational and environmental carcinogens (agents that can cause cancer), ionizing radiation, and cytotoxic agents (agents that are toxic to cells) have been associated in some cases. The cause of juvenile myelomonocytic leukemia (JMML) is not known; however, children with neurofibromatosis type 1 (NF1) are at increased risk for developing JMML, and up to 14% of cases of JMML occur in children with NF1. Atypical chronic myelogenous leukemia (aCML) has been associated with cytogenetic (chromosomal) abnormalities in as many as 80% of individuals with the disease; however, no cytogenetic abnormality is specific. Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/ MPN-UC) (also known as mixed myeloproliferative/ myelodysplastic syndrome) also has no known cause. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Myelodysplastic/myeloproliferative disease ? assistant What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic leukemia (CMML) is unknown, but exposure to occupational and environmental carcinogens (agents that can cause cancer), ionizing radiation, and cytotoxic agents (agents that are toxic to cells) have been associated in some cases. The cause of juvenile myelomonocytic leukemia (JMML) is not known; however, children with neurofibromatosis type 1 (NF1) are at increased risk for developing JMML, and up to 14% of cases of JMML occur in children with NF1. Atypical chronic myelogenous leukemia (aCML) has been associated with cytogenetic (chromosomal) abnormalities in as many as 80% of individuals with the disease; however, no cytogenetic abnormality is specific. Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/ MPN-UC) (also known as mixed myeloproliferative/ myelodysplastic syndrome) also has no known cause. |
What are the symptoms of Pachygyria with mental retardation and seizures ? | What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pachygyria with mental retardation and seizures ? assistant What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Congenital dyserythropoietic anemia type 3 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Congenital hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Congenital dyserythropoietic anemia type 3 ? assistant What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Congenital hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Dextrocardia ? | Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present. | 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) Dextrocardia ? assistant Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present. |
What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ? | What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 ureter 90% Hypoplasia of penis 90% Oligohydramnios 90% Respiratory insufficiency 90% Sandal gap 90% Abnormality of coagulation 50% Aplasia/Hypoplasia of the lungs 50% Ascites 50% Depressed nasal ridge 50% Displacement of the external urethral meatus 50% Microcephaly 50% Muscular hypotonia 50% Narrow mouth 50% Polyhydramnios 50% Renal hypoplasia/aplasia 50% Splenomegaly 50% Thin vermilion border 50% Abnormal external genitalia - Abnormality of earlobe - Deep plantar creases - Flat occiput - Hemolytic anemia - Hepatosplenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ? assistant What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 ureter 90% Hypoplasia of penis 90% Oligohydramnios 90% Respiratory insufficiency 90% Sandal gap 90% Abnormality of coagulation 50% Aplasia/Hypoplasia of the lungs 50% Ascites 50% Depressed nasal ridge 50% Displacement of the external urethral meatus 50% Microcephaly 50% Muscular hypotonia 50% Narrow mouth 50% Polyhydramnios 50% Renal hypoplasia/aplasia 50% Splenomegaly 50% Thin vermilion border 50% Abnormal external genitalia - Abnormality of earlobe - Deep plantar creases - Flat occiput - Hemolytic anemia - Hepatosplenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Immune defect due to absence of thymus ? | What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Immune defect due to absence of thymus ? assistant What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Polymyositis ? | Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. The exact cause of polymyositis is unknown; however, the disease shares many characteristics with autoimmune disorders which occur when the immune system mistakenly attacks healthy body tissues. It some cases, the condition may be associated with viral infections, malignancies, or connective tissue disorders. Although there is no cure for polymyositis, treatment can improve muscle strength and function. | 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) Polymyositis ? assistant Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. The exact cause of polymyositis is unknown; however, the disease shares many characteristics with autoimmune disorders which occur when the immune system mistakenly attacks healthy body tissues. It some cases, the condition may be associated with viral infections, malignancies, or connective tissue disorders. Although there is no cure for polymyositis, treatment can improve muscle strength and function. |
What are the symptoms of Polymyositis ? | What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias. | 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 Polymyositis ? assistant What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias. |
How to diagnose Polymyositis ? | How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Polymyositis ? assistant How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource. |
What are the treatments for Polymyositis ? | How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Polymyositis ? assistant How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.