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What are the symptoms of Iminoglycinuria ? | What are the signs and symptoms of Iminoglycinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Iminoglycinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal recessive inheritance - Hydroxyprolinuria - Hyperglycinuria - Intellectual disability - Prolinuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Iminoglycinuria ? assistant What are the signs and symptoms of Iminoglycinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Iminoglycinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal recessive inheritance - Hydroxyprolinuria - Hyperglycinuria - Intellectual disability - Prolinuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ataxia with Oculomotor Apraxia Type 2 ? | What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia 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) Impaired distal tactile sensation 57% Tremor 57% Strabismus 30% Conjunctival telangiectasia 5% Areflexia 10/10 Cerebellar atrophy 8/8 Distal amyotrophy 10/10 Distal muscle weakness 10/10 Dysarthria 10/10 Dysphagia 10/10 Elevated alpha-fetoprotein 6/6 Gait ataxia 10/10 Impaired proprioception 10/10 Peripheral axonal neuropathy 8/8 Nystagmus 8/10 Pes cavus 12/18 Oculomotor apraxia 10/18 Scoliosis 7/18 Dystonia 5/18 Head tremor 5/19 Chorea 4/18 Hyporeflexia 4/18 Abnormal pyramidal signs - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Elevated serum creatine phosphokinase - Gaze-evoked nystagmus - Impaired distal vibration sensation - Increased antibody level in blood - Limb ataxia - Polyneuropathy - Pontocerebellar atrophy - Progressive - Progressive gait ataxia - Saccadic smooth pursuit - 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 Ataxia with Oculomotor Apraxia Type 2 ? assistant What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia 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) Impaired distal tactile sensation 57% Tremor 57% Strabismus 30% Conjunctival telangiectasia 5% Areflexia 10/10 Cerebellar atrophy 8/8 Distal amyotrophy 10/10 Distal muscle weakness 10/10 Dysarthria 10/10 Dysphagia 10/10 Elevated alpha-fetoprotein 6/6 Gait ataxia 10/10 Impaired proprioception 10/10 Peripheral axonal neuropathy 8/8 Nystagmus 8/10 Pes cavus 12/18 Oculomotor apraxia 10/18 Scoliosis 7/18 Dystonia 5/18 Head tremor 5/19 Chorea 4/18 Hyporeflexia 4/18 Abnormal pyramidal signs - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Elevated serum creatine phosphokinase - Gaze-evoked nystagmus - Impaired distal vibration sensation - Increased antibody level in blood - Limb ataxia - Polyneuropathy - Pontocerebellar atrophy - Progressive - Progressive gait ataxia - Saccadic smooth pursuit - 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) Olivopontocerebellar atrophy ? | Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications. | 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) Olivopontocerebellar atrophy ? assistant Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications. |
Is Olivopontocerebellar atrophy inherited ? | Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the specific genetic cause. For example, OPCA associated with spinocerebellar ataxia 3 is inherited in an autosomal dominant manner. Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance. Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis. Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA). People with a personal or family history of OPCA are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can evaluate the family history; address questions and concerns; assess recurrence risks; and facilitate genetic testing if desired. | 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 Olivopontocerebellar atrophy inherited ? assistant Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the specific genetic cause. For example, OPCA associated with spinocerebellar ataxia 3 is inherited in an autosomal dominant manner. Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance. Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis. Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA). People with a personal or family history of OPCA are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can evaluate the family history; address questions and concerns; assess recurrence risks; and facilitate genetic testing if desired. |
How to diagnose Olivopontocerebellar atrophy ? | How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset). Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out. | 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 Olivopontocerebellar atrophy ? assistant How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset). Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out. |
What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ? | What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ? assistant What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Brown syndrome ? | Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and 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) Brown syndrome ? assistant Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation or a problem with development. Some cases are constant while other are intermittent. Treatment depends upon the cause and severity of the movement disorder. Options include close observation, nonsteroidal anti-inflammatory agents like Ibuprofen, corticosteroids, and surgery. |
What are the treatments for Brown syndrome ? | How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medications like Ibuprofen. Acquired cases of inflammatory Brown syndrome may be successfully treated with corticosteroids. Surgery is considered in cases which present with double vision, compromised binocular vision, significant abnormalities in head position or obvious eye misalignment when looking straight ahead. You can find additional information regarding treatment of Brown syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publishers Web site. Using 'brown syndrome [ti] AND treatment' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search. http://www.ncbi.nlm.nih.gov/PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. | 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 Brown syndrome ? assistant How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medications like Ibuprofen. Acquired cases of inflammatory Brown syndrome may be successfully treated with corticosteroids. Surgery is considered in cases which present with double vision, compromised binocular vision, significant abnormalities in head position or obvious eye misalignment when looking straight ahead. You can find additional information regarding treatment of Brown syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publishers Web site. Using 'brown syndrome [ti] AND treatment' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search. http://www.ncbi.nlm.nih.gov/PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. |
What is (are) Barber Say syndrome ? | Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach. | 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) Barber Say syndrome ? assistant Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach. |
What are the symptoms of Barber Say syndrome ? | What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say 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% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Delayed eruption of teeth 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Telecanthus 90% Wide mouth 90% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Hyperextensible skin 50% Atresia of the external auditory canal 7.5% External ear malformation 7.5% Shawl scrotum 7.5% High palate 5% Intellectual disability 5% Abnormality of female external genitalia - Abnormality of male external genitalia - Abnormality of the pinna - Autosomal dominant inheritance - Bulbous nose - Dermal atrophy - Dry skin - Ectropion - Hearing impairment - Hypoplastic nipples - Low-set ears - Mandibular prognathia - Redundant skin - Sparse eyebrow - Thin vermilion border - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Barber Say syndrome ? assistant What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say 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% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Delayed eruption of teeth 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Telecanthus 90% Wide mouth 90% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Hyperextensible skin 50% Atresia of the external auditory canal 7.5% External ear malformation 7.5% Shawl scrotum 7.5% High palate 5% Intellectual disability 5% Abnormality of female external genitalia - Abnormality of male external genitalia - Abnormality of the pinna - Autosomal dominant inheritance - Bulbous nose - Dermal atrophy - Dry skin - Ectropion - Hearing impairment - Hypoplastic nipples - Low-set ears - Mandibular prognathia - Redundant skin - Sparse eyebrow - Thin vermilion border - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Keratosis follicularis spinulosa decalvans ? | Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. KFSD is thought to be caused by mutations in the SAT1 gene and inherited in an X-linked 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) Keratosis follicularis spinulosa decalvans ? assistant Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. KFSD is thought to be caused by mutations in the SAT1 gene and inherited in an X-linked manner. |
What are the symptoms of Keratosis follicularis spinulosa decalvans ? | What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hyperkeratosis 90% Ichthyosis 90% Abnormality of the fingernails 50% Blepharitis 50% Myopia 50% Opacification of the corneal stroma 50% Retinal detachment 50% Abnormality of dental color 7.5% Abnormality of dental enamel 7.5% Carious teeth 7.5% Eczema 7.5% Conjunctivitis - Corneal dystrophy - Dry skin - Dystrophic fingernails - Ectropion - Facial erythema - Follicular hyperkeratosis - Heterogeneous - Keratitis - Nail dysplasia - Palmoplantar keratoderma - Perifollicular fibrosis - Photophobia - Scarring alopecia of scalp - Sparse eyebrow - Sparse eyelashes - 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 Keratosis follicularis spinulosa decalvans ? assistant What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hyperkeratosis 90% Ichthyosis 90% Abnormality of the fingernails 50% Blepharitis 50% Myopia 50% Opacification of the corneal stroma 50% Retinal detachment 50% Abnormality of dental color 7.5% Abnormality of dental enamel 7.5% Carious teeth 7.5% Eczema 7.5% Conjunctivitis - Corneal dystrophy - Dry skin - Dystrophic fingernails - Ectropion - Facial erythema - Follicular hyperkeratosis - Heterogeneous - Keratitis - Nail dysplasia - Palmoplantar keratoderma - Perifollicular fibrosis - Photophobia - Scarring alopecia of scalp - Sparse eyebrow - Sparse eyelashes - 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) Merkel cell carcinoma ? | Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread. | 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) Merkel cell carcinoma ? assistant Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread. |
What causes Merkel cell carcinoma ? | What causes Merkel cell carcinoma? The exact underlying cause of Merkel cell carcinoma (MCC) is unknown, but several risk factors have been associated with the development of MCC. Having one or more risk factors does not mean that a person will develop MCC; most individuals with risk factors will not develop MCC. Risk factors include: -being over 50 years of age -having fair skin -having a history of extensive sun exposure (natural or artificial) -having chronic immune suppression, such as after organ transplantation or having HIV Researchers have also found that a virus called Merkel cell polyomavirus (MCPyV) is frequently involved in the development of MCC. MCPyV is found in about 80% of tumor cells tested. This virus is thought to alter the DNA in such a way that influences tumor development. | 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 Merkel cell carcinoma ? assistant What causes Merkel cell carcinoma? The exact underlying cause of Merkel cell carcinoma (MCC) is unknown, but several risk factors have been associated with the development of MCC. Having one or more risk factors does not mean that a person will develop MCC; most individuals with risk factors will not develop MCC. Risk factors include: -being over 50 years of age -having fair skin -having a history of extensive sun exposure (natural or artificial) -having chronic immune suppression, such as after organ transplantation or having HIV Researchers have also found that a virus called Merkel cell polyomavirus (MCPyV) is frequently involved in the development of MCC. MCPyV is found in about 80% of tumor cells tested. This virus is thought to alter the DNA in such a way that influences tumor development. |
Is Merkel cell carcinoma inherited ? | Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutations and occur during a person's lifetime, often as random events. Sometimes, something in the environment can lead to a somatic mutation, such as long-term sun exposure or infection with the Merkel cell polyomavirus. These are known risk factors for developing MCC. | 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 Merkel cell carcinoma inherited ? assistant Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutations and occur during a person's lifetime, often as random events. Sometimes, something in the environment can lead to a somatic mutation, such as long-term sun exposure or infection with the Merkel cell polyomavirus. These are known risk factors for developing MCC. |
What is (are) Limb-girdle muscular dystrophy, type 2C ? | Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms. | 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) Limb-girdle muscular dystrophy, type 2C ? assistant Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms. |
What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Limb-girdle muscular dystrophy, type 2C ? assistant What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the treatments for Limb-girdle muscular dystrophy, type 2C ? | What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders | 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 Limb-girdle muscular dystrophy, type 2C ? assistant What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders |
What is (are) Non 24 hour sleep wake disorder ? | Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Non 24 hour sleep wake disorder ? assistant Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role. |
What are the symptoms of Non 24 hour sleep wake disorder ? | What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Non 24 hour sleep wake disorder ? assistant What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Erythromelalgia ? | Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment. | 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) Erythromelalgia ? assistant Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment. |
What are the symptoms of Erythromelalgia ? | What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Erythromelalgia ? assistant What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Erythromelalgia ? | What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified. | 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 Erythromelalgia ? assistant What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified. |
How to diagnose Erythromelalgia ? | How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition. | 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 Erythromelalgia ? assistant How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition. |
What are the treatments for Erythromelalgia ? | What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups. | 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 Erythromelalgia ? assistant What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups. |
What is (are) Gigantomastia ? | Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical literature suggests that definitions range from a D-cup bra size to breast enlargement requiring reduction of over 0.8 - 2 kg, which is equivalent to about 1.75 - 4.5 pounds. The exact cause of gigantomastia has not been determined. Nonetheless, the following theories have been proposed to explain gigantomastia: (1) end-organ hypersensitivity (a condition in which the breast tissue is more sensitive to hormones circulating in the body), (2) autoimmune issues, (3) high IGF-1 (insulin growth factor-1, a hormone involved in regulating bone growth) and (4) hyperprolactanemia (high levels of prolactin). Gigantomastia has been noted as a side effect of treatment with certain medications like D-pencillamine and in one case as an apparently hereditary condition. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is may also associated with decreased fetal growth, if the gigantomastia is present during pregnancy. Treatment is based on the person's symptoms and may include breast reduction, mastectomy with or without reconstruction, hormonal treatment, or a combination of treatments. | 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) Gigantomastia ? assistant Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical literature suggests that definitions range from a D-cup bra size to breast enlargement requiring reduction of over 0.8 - 2 kg, which is equivalent to about 1.75 - 4.5 pounds. The exact cause of gigantomastia has not been determined. Nonetheless, the following theories have been proposed to explain gigantomastia: (1) end-organ hypersensitivity (a condition in which the breast tissue is more sensitive to hormones circulating in the body), (2) autoimmune issues, (3) high IGF-1 (insulin growth factor-1, a hormone involved in regulating bone growth) and (4) hyperprolactanemia (high levels of prolactin). Gigantomastia has been noted as a side effect of treatment with certain medications like D-pencillamine and in one case as an apparently hereditary condition. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is may also associated with decreased fetal growth, if the gigantomastia is present during pregnancy. Treatment is based on the person's symptoms and may include breast reduction, mastectomy with or without reconstruction, hormonal treatment, or a combination of treatments. |
What are the treatments for Gigantomastia ? | What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction procedure or mastectomy. Mastectomy might be recommended following recurrence of gigantomastia after breast reduction, especially in those patients who have gigantomastia associated with puberty or pregnancy. It is important to discuss this information with a health care provider in order to determine what treatment might be appropriate. | 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 Gigantomastia ? assistant What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction procedure or mastectomy. Mastectomy might be recommended following recurrence of gigantomastia after breast reduction, especially in those patients who have gigantomastia associated with puberty or pregnancy. It is important to discuss this information with a health care provider in order to determine what treatment might be appropriate. |
What is (are) Pili torti ? | Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti. | 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) Pili torti ? assistant Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti. |
What are the symptoms of Pili torti ? | What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pili torti ? assistant What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pili torti ? | Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig. | 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 Pili torti ? assistant Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig. |
What are the symptoms of Pyknoachondrogenesis ? | What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 vertebral ossification 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the mouth 90% Abnormality of the sacrum 90% Depressed nasal ridge 90% Enlarged thorax 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Micromelia 90% Palpebral edema 90% Premature birth 90% Short stature 90% Short thorax 90% Thickened nuchal skin fold 90% Autosomal recessive inheritance - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pyknoachondrogenesis ? assistant What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 vertebral ossification 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the mouth 90% Abnormality of the sacrum 90% Depressed nasal ridge 90% Enlarged thorax 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Micromelia 90% Palpebral edema 90% Premature birth 90% Short stature 90% Short thorax 90% Thickened nuchal skin fold 90% Autosomal recessive inheritance - Stillbirth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ? | What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Thrombocytopenia with elevated serum IgA and renal disease ? assistant What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Merlob Grunebaum Reisner syndrome ? | What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Merlob Grunebaum Reisner syndrome ? assistant What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Dendritic cell tumor ? | A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or 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 is (are) Dendritic cell tumor ? assistant A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy. |
What is (are) Medullary cystic kidney disease ? | Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure. | 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) Medullary cystic kidney disease ? assistant Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure. |
What are the symptoms of Medullary cystic kidney disease ? | What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Multiple small medullary renal cysts - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Medullary cystic kidney disease ? assistant What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Multiple small medullary renal cysts - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Medullary cystic kidney disease ? | What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease. | 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 Medullary cystic kidney disease ? assistant What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease. |
Is Medullary cystic kidney disease inherited ? | How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Medullary cystic kidney disease inherited ? assistant How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children. |
What are the symptoms of Pterygium colli mental retardation digital anomalies ? | What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pterygium colli mental retardation digital anomalies ? assistant What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 X-linked lymphoproliferative syndrome ? | What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative 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) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked inheritance - 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 X-linked lymphoproliferative syndrome ? assistant What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative 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) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked inheritance - 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) Ambras syndrome ? | Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance. | 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) Ambras syndrome ? assistant Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance. |
What are the symptoms of Ambras syndrome ? | What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congenital, generalized hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ambras syndrome ? assistant What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Congenital, generalized hypertrichosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Ataxia - hypogonadism - choroidal dystrophy ? | What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Incoordination 90% Abnormal upper motor neuron morphology 5% Spasticity 5% Abnormality of metabolism/homeostasis - Areflexia - Autosomal recessive inheritance - Cerebellar atrophy - Chorioretinal dystrophy - Distal amyotrophy - Hypogonadotrophic hypogonadism - Hyporeflexia - Intention tremor - Juvenile onset - Photophobia - Progressive - Progressive visual loss - Retinal dystrophy - Scanning speech - Spinocerebellar atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Ataxia - hypogonadism - choroidal dystrophy ? assistant What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Incoordination 90% Abnormal upper motor neuron morphology 5% Spasticity 5% Abnormality of metabolism/homeostasis - Areflexia - Autosomal recessive inheritance - Cerebellar atrophy - Chorioretinal dystrophy - Distal amyotrophy - Hypogonadotrophic hypogonadism - Hyporeflexia - Intention tremor - Juvenile onset - Photophobia - Progressive - Progressive visual loss - Retinal dystrophy - Scanning speech - Spinocerebellar atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Hashimoto's encephalitis ? | Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune or inflammatory abnormality. It is associated with Hashimoto's thyroiditis, but the nature of the relationship between the two conditions is unclear. Most people with HE respond well to corticosteroid therapy or other immunosuppressive therapies, and symptoms typically improve or resolve over a few months. | 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) Hashimoto's encephalitis ? assistant Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune or inflammatory abnormality. It is associated with Hashimoto's thyroiditis, but the nature of the relationship between the two conditions is unclear. Most people with HE respond well to corticosteroid therapy or other immunosuppressive therapies, and symptoms typically improve or resolve over a few months. |
What are the symptoms of Hashimoto's encephalitis ? | What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also 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 are the symptoms of Hashimoto's encephalitis ? assistant What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. |
What causes Hashimoto's encephalitis ? | What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism. | 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 Hashimoto's encephalitis ? assistant What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism. |
Is Hashimoto's encephalitis inherited ? | Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur in association with other autoimmune disorders, so HE may develop due to an interaction between genes that predispose a person (susceptibility genes) and environmental triggers. | 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 Hashimoto's encephalitis inherited ? assistant Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur in association with other autoimmune disorders, so HE may develop due to an interaction between genes that predispose a person (susceptibility genes) and environmental triggers. |
What are the treatments for Hashimoto's encephalitis ? | How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. Symptoms typically improve or resolve over a few months. Decisions regarding the length of steroid treatment and the rate of tapering off steroids are based on the individual's response to treatment. Treatment may last as long as two years in some patients. People with HE who experience repeated HE relapses, do not respond to steroids, and/or cannot tolerate steroid treatment have been treated with other immunosuppressive medications such as azathioprine and cyclophosphamide. Intravenous immunoglobulin, and plasmapheresis have also been used. | 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 Hashimoto's encephalitis ? assistant How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. Symptoms typically improve or resolve over a few months. Decisions regarding the length of steroid treatment and the rate of tapering off steroids are based on the individual's response to treatment. Treatment may last as long as two years in some patients. People with HE who experience repeated HE relapses, do not respond to steroids, and/or cannot tolerate steroid treatment have been treated with other immunosuppressive medications such as azathioprine and cyclophosphamide. Intravenous immunoglobulin, and plasmapheresis have also been used. |
What is (are) Mosaic trisomy 9 ? | Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mosaic trisomy 9 ? assistant Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of Mosaic trisomy 9 ? | What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or "rocker bottom" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation | 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 Mosaic trisomy 9 ? assistant What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or "rocker bottom" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation |
What causes Mosaic trisomy 9 ? | What causes mosaic trisomy 9? Most cases of mosaic trisomy 9 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. If an egg or sperm with an extra chromosome 9 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 9 in each cell. As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 9. In people with mosaic trisomy 9, this attempt may be partly successful, leaving some cells with an extra chromosome 9 and some cells with the extra chromosome deleted (the usual chromosome number). This correction process is called trisomy rescue. In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 9, some of the body's cells have the usual two copies of chromosome 9, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 9 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms. In rare cases, mosaic trisomy 9 is inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. If this rearrangement is considered "balanced," meaning the piece of chromosome is in a different order but no genetic material is gained or lost, it usually does not cause any symptoms or health problems. However, it can be associated with an increased risk of having children with an abnormal number or 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: What causes Mosaic trisomy 9 ? assistant What causes mosaic trisomy 9? Most cases of mosaic trisomy 9 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. If an egg or sperm with an extra chromosome 9 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 9 in each cell. As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 9. In people with mosaic trisomy 9, this attempt may be partly successful, leaving some cells with an extra chromosome 9 and some cells with the extra chromosome deleted (the usual chromosome number). This correction process is called trisomy rescue. In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 9, some of the body's cells have the usual two copies of chromosome 9, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 9 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms. In rare cases, mosaic trisomy 9 is inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. If this rearrangement is considered "balanced," meaning the piece of chromosome is in a different order but no genetic material is gained or lost, it usually does not cause any symptoms or health problems. However, it can be associated with an increased risk of having children with an abnormal number or chromosomes. |
Is Mosaic trisomy 9 inherited ? | Is mosaic trisomy 9 inherited? Mosaic trisomy 9 is usually not inherited. It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. In rare cases, mosaic trisomy 9 may be inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. In these cases, the parent has a "balanced" rearrangement, meaning the piece of chromosome is in a different order but no genetic material is gained or lost. Carriers of a balanced rearrangement typically to not have any symptoms or health problems. However, they may be at an increased risk of having children with an abnormal number or 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: Is Mosaic trisomy 9 inherited ? assistant Is mosaic trisomy 9 inherited? Mosaic trisomy 9 is usually not inherited. It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. In rare cases, mosaic trisomy 9 may be inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. In these cases, the parent has a "balanced" rearrangement, meaning the piece of chromosome is in a different order but no genetic material is gained or lost. Carriers of a balanced rearrangement typically to not have any symptoms or health problems. However, they may be at an increased risk of having children with an abnormal number or chromosomes. |
How to diagnose Mosaic trisomy 9 ? | How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood. | 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 Mosaic trisomy 9 ? assistant How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood. |
What are the treatments for Mosaic trisomy 9 ? | How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Depending on the degree of intellectual disability, a child may require special education classes. Heart defects and cleft lip and/or palate may need to be surgically repaired. Children with hydrocephalus may be treated with certain medications and/or shunting (placement of a specialized device that drains excess fluid away from the brain). Other surgeries may be recommended depending on the nature and severity of the other features (i.e. craniofacial, muscular, skeletal, kidney, and/or reproductive system problems) and their associated symptoms. | 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 Mosaic trisomy 9 ? assistant How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Depending on the degree of intellectual disability, a child may require special education classes. Heart defects and cleft lip and/or palate may need to be surgically repaired. Children with hydrocephalus may be treated with certain medications and/or shunting (placement of a specialized device that drains excess fluid away from the brain). Other surgeries may be recommended depending on the nature and severity of the other features (i.e. craniofacial, muscular, skeletal, kidney, and/or reproductive system problems) and their associated symptoms. |
What are the symptoms of Mucopolysaccharidosis type IV ? | What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 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 Mucopolysaccharidosis type IV ? assistant What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 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 Microcephaly, holoprosencephaly, and intrauterine growth retardation ? | What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth 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) Anterior segment dysgenesis - Atresia of the external auditory canal - Autosomal recessive inheritance - Convex nasal ridge - Hypertelorism - Intrauterine growth retardation - Macrotia - Microcephaly - Narrow mouth - Retrognathia - Semilobar holoprosencephaly - Strabismus - Telecanthus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation ? assistant What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth 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) Anterior segment dysgenesis - Atresia of the external auditory canal - Autosomal recessive inheritance - Convex nasal ridge - Hypertelorism - Intrauterine growth retardation - Macrotia - Microcephaly - Narrow mouth - Retrognathia - Semilobar holoprosencephaly - Strabismus - Telecanthus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Axonal regeneration - Distal sensory impairment - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ? assistant What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Axonal regeneration - Distal sensory impairment - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ? | What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Alopecia 90% Myopathy 90% Neurological speech impairment 90% Ophthalmoparesis 90% Abnormality of dental enamel 50% Aplasia/Hypoplasia of the skin 50% Ptosis 50% Fatigable weakness 7.5% Anemia - Autosomal recessive inheritance - Carious teeth - Hypoplasia of dental enamel - Increased connective tissue - Keratitis - Milia - Muscular dystrophy - Nail dysplasia - Nail dystrophy - Neonatal respiratory distress - Palmoplantar hyperkeratosis - Punctate keratitis - Scarring alopecia of scalp - Short stature - Urethral stricture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Epidermolysa bullosa simplex with muscular dystrophy ? assistant What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Alopecia 90% Myopathy 90% Neurological speech impairment 90% Ophthalmoparesis 90% Abnormality of dental enamel 50% Aplasia/Hypoplasia of the skin 50% Ptosis 50% Fatigable weakness 7.5% Anemia - Autosomal recessive inheritance - Carious teeth - Hypoplasia of dental enamel - Increased connective tissue - Keratitis - Milia - Muscular dystrophy - Nail dysplasia - Nail dystrophy - Neonatal respiratory distress - Palmoplantar hyperkeratosis - Punctate keratitis - Scarring alopecia of scalp - Short stature - Urethral stricture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Cone-rod dystrophy amelogenesis imperfecta ? | What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 color vision 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Abnormality of retinal pigmentation 90% Nystagmus 90% Photophobia 90% Visual impairment 90% Optic atrophy 50% Amelogenesis imperfecta - Autosomal recessive inheritance - Carious teeth - Cone/cone-rod dystrophy - Monochromacy - Nyctalopia - Optic disc pallor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Cone-rod dystrophy amelogenesis imperfecta ? assistant What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis imperfecta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 color vision 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Abnormality of retinal pigmentation 90% Nystagmus 90% Photophobia 90% Visual impairment 90% Optic atrophy 50% Amelogenesis imperfecta - Autosomal recessive inheritance - Carious teeth - Cone/cone-rod dystrophy - Monochromacy - Nyctalopia - Optic disc pallor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Pityriasis lichenoides et varioliformis acuta ? | Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids. | 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) Pityriasis lichenoides et varioliformis acuta ? assistant Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids. |
What are the symptoms of Pityriasis lichenoides et varioliformis acuta ? | What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may become filled with blood and/or pus or erode into crusted red-brown spots. People may also experience burning and itching of the affected area. Scarring and/or temporary discoloration of the skin may be present after the lesions have healed. Although PLEVA can affect almost any part of the body, it most commonly develops on the trunk and/or limbs (arms/legs). Affected people may have a few to more than one hundred papules. The skin abnormalities generally resolve without treatment in a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Aside from the skin findings, most affected people do not experience any additional signs and symptoms. However, some may experience fever, headaches, joint pain and swelling of nearby lymph nodes. Febrile Ulceronecrotic Mucha-Haberman Disease is a rare and severe variant of PLEVA that is associated with unique signs and symptoms. For more information on this condition, 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 symptoms of Pityriasis lichenoides et varioliformis acuta ? assistant What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may become filled with blood and/or pus or erode into crusted red-brown spots. People may also experience burning and itching of the affected area. Scarring and/or temporary discoloration of the skin may be present after the lesions have healed. Although PLEVA can affect almost any part of the body, it most commonly develops on the trunk and/or limbs (arms/legs). Affected people may have a few to more than one hundred papules. The skin abnormalities generally resolve without treatment in a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Aside from the skin findings, most affected people do not experience any additional signs and symptoms. However, some may experience fever, headaches, joint pain and swelling of nearby lymph nodes. Febrile Ulceronecrotic Mucha-Haberman Disease is a rare and severe variant of PLEVA that is associated with unique signs and symptoms. For more information on this condition, please click here. |
What causes Pityriasis lichenoides et varioliformis acuta ? | What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated with PLEVA include: Toxoplasma gondii Epstein-Barr virus HIV Cytomegalovirus Parvovirus (fifth disease) Staphylococcus aureus Group A beta-haemolytic streptococci Others scientists think the condition may be a benign lymphoproliferative disorder. These conditions are characterized by an overproduction of certain white blood cells (lymphocytes) which can result in tissue and organ damage. | 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 Pityriasis lichenoides et varioliformis acuta ? assistant What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated with PLEVA include: Toxoplasma gondii Epstein-Barr virus HIV Cytomegalovirus Parvovirus (fifth disease) Staphylococcus aureus Group A beta-haemolytic streptococci Others scientists think the condition may be a benign lymphoproliferative disorder. These conditions are characterized by an overproduction of certain white blood cells (lymphocytes) which can result in tissue and organ damage. |
How to diagnose Pityriasis lichenoides et varioliformis acuta ? | How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated 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: How to diagnose Pityriasis lichenoides et varioliformis acuta ? assistant How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated infection. |
What are the treatments for Pityriasis lichenoides et varioliformis acuta ? | How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. If treatment is indicated, there are many different therapies that have been used to treat PLEVA with varying degrees of success. These include: Oral antibiotics Sun exposure Topical steroids Immunomodulators (medications used to help regulate or normalize the immune system) Phototherapy Systemic steroids Unfortunately, PLEVA may not always respond to treatment and relapses often occur when treatment is discontinued. | 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 Pityriasis lichenoides et varioliformis acuta ? assistant How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. If treatment is indicated, there are many different therapies that have been used to treat PLEVA with varying degrees of success. These include: Oral antibiotics Sun exposure Topical steroids Immunomodulators (medications used to help regulate or normalize the immune system) Phototherapy Systemic steroids Unfortunately, PLEVA may not always respond to treatment and relapses often occur when treatment is discontinued. |
What are the symptoms of Pellagra like syndrome ? | What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Dry skin 90% Nystagmus 90% Skin rash 90% Urticaria 90% Abnormality of movement 50% Cataract 50% Cognitive impairment 50% Diplopia 50% Muscular hypotonia 50% Neurological speech impairment 50% Reduced consciousness/confusion 50% Short stature 50% Ataxia - Autosomal recessive inheritance - Confusion - Dysarthria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Pellagra like syndrome ? assistant What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Dry skin 90% Nystagmus 90% Skin rash 90% Urticaria 90% Abnormality of movement 50% Cataract 50% Cognitive impairment 50% Diplopia 50% Muscular hypotonia 50% Neurological speech impairment 50% Reduced consciousness/confusion 50% Short stature 50% Ataxia - Autosomal recessive inheritance - Confusion - Dysarthria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Rheumatic Fever ? | Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. Early signs and symptoms include sore throat; swollen red tonsils; fever; headache; and/or muscle and joint aches. Some affected people develop rheumatic heart disease, which can lead to serious inflammation and scarring of the heart valves. It is not clear why some people who are infected with group A Streptococcus bacteria go on to develop rheumatic fever, while others do not; however, it appears that some families may have a genetic susceptibility to develop the condition. Treatment usually includes antibiotics and/or anti-inflammatory medications. | 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) Rheumatic Fever ? assistant Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. Early signs and symptoms include sore throat; swollen red tonsils; fever; headache; and/or muscle and joint aches. Some affected people develop rheumatic heart disease, which can lead to serious inflammation and scarring of the heart valves. It is not clear why some people who are infected with group A Streptococcus bacteria go on to develop rheumatic fever, while others do not; however, it appears that some families may have a genetic susceptibility to develop the condition. Treatment usually includes antibiotics and/or anti-inflammatory medications. |
What are the symptoms of Rheumatic Fever ? | What are the signs and symptoms of Rheumatic Fever? Rheumatic fever is primarily diagnosed in children between the ages of 6 and 16 and can affect many different systems of the body, including the heart, joints, nervous system and/or skin. The condition usually develops approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. Early signs and symptoms may include sore throat; swollen red tonsils; fever; headache; and/or muscle aches. Affected people may also experience: Abdominal pain Rheumatic heart disease Joint pain and/or swelling Nosebleeds Skin nodules (painless, firm, round lumps underneath the skin) Skin rash Sydenham chorea (abrupt, non-repetitive limb movements and grimaces) People with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition. This can cause progressive (worsening over time) heart damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatic Fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Anorexia 90% Arthritis 90% Hypermelanotic macule 90% Nausea and vomiting 90% Recurrent pharyngitis 90% Abdominal pain 50% Abnormality of the aortic valve 50% Abnormality of the endocardium 50% Abnormality of the mitral valve 50% Abnormality of the myocardium 50% Arrhythmia 50% Arthralgia 50% Chest pain 50% Chorea 50% Pallor 50% Sinusitis 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Behavioral abnormality 7.5% Constipation 7.5% Epistaxis 7.5% Gait disturbance 7.5% Hemiballismus 7.5% Migraine 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Abnormality of the immune system - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Rheumatic Fever ? assistant What are the signs and symptoms of Rheumatic Fever? Rheumatic fever is primarily diagnosed in children between the ages of 6 and 16 and can affect many different systems of the body, including the heart, joints, nervous system and/or skin. The condition usually develops approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. Early signs and symptoms may include sore throat; swollen red tonsils; fever; headache; and/or muscle aches. Affected people may also experience: Abdominal pain Rheumatic heart disease Joint pain and/or swelling Nosebleeds Skin nodules (painless, firm, round lumps underneath the skin) Skin rash Sydenham chorea (abrupt, non-repetitive limb movements and grimaces) People with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition. This can cause progressive (worsening over time) heart damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatic Fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Anorexia 90% Arthritis 90% Hypermelanotic macule 90% Nausea and vomiting 90% Recurrent pharyngitis 90% Abdominal pain 50% Abnormality of the aortic valve 50% Abnormality of the endocardium 50% Abnormality of the mitral valve 50% Abnormality of the myocardium 50% Arrhythmia 50% Arthralgia 50% Chest pain 50% Chorea 50% Pallor 50% Sinusitis 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Behavioral abnormality 7.5% Constipation 7.5% Epistaxis 7.5% Gait disturbance 7.5% Hemiballismus 7.5% Migraine 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Abnormality of the immune system - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Rheumatic Fever ? | What causes rheumatic fever? Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever. Although group A Streptococcus bacterial infections are highly contagious, rheumatic fever is not spread from person to person. The exact underlying cause of the condition is not well understood and it is unclear why some people with strep infections go on to develop rheumatic fever, while others do not. However, some scientists suspect that an exaggerated immune response in genetically susceptible people may play a role in the development of the condition. | 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 Rheumatic Fever ? assistant What causes rheumatic fever? Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever. Although group A Streptococcus bacterial infections are highly contagious, rheumatic fever is not spread from person to person. The exact underlying cause of the condition is not well understood and it is unclear why some people with strep infections go on to develop rheumatic fever, while others do not. However, some scientists suspect that an exaggerated immune response in genetically susceptible people may play a role in the development of the condition. |
Is Rheumatic Fever inherited ? | Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility. | 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 Rheumatic Fever inherited ? assistant Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility. |
How to diagnose Rheumatic Fever ? | How is rheumatic fever diagnosed? A diagnosis of rheumatic fever is usually based on the following: Characteristic signs and symptoms identified by physical examination and/or specialized testing such as a blood test, chest X-ray and echocardiogram Confirmation of group A Streptococcus bacterial infection with a throat culture or blood tests The diagnosis can also be supported by blood tests that confirm the presence of certain proteins that increase in response to inflammation (called acute-phase reactants) and tend to be elevated in rheumatic fever. Additional tests may be recommended to rule out other conditions that cause similar features. | 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 Rheumatic Fever ? assistant How is rheumatic fever diagnosed? A diagnosis of rheumatic fever is usually based on the following: Characteristic signs and symptoms identified by physical examination and/or specialized testing such as a blood test, chest X-ray and echocardiogram Confirmation of group A Streptococcus bacterial infection with a throat culture or blood tests The diagnosis can also be supported by blood tests that confirm the presence of certain proteins that increase in response to inflammation (called acute-phase reactants) and tend to be elevated in rheumatic fever. Additional tests may be recommended to rule out other conditions that cause similar features. |
What are the treatments for Rheumatic Fever ? | How might rheumatic fever be treated? Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcus bacterial infection and anti-inflammatory medications such as aspirin or corticosteroids. Because people with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, low dose antibiotics are often continued over a long period of time to prevent recurrence. | 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 Rheumatic Fever ? assistant How might rheumatic fever be treated? Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcus bacterial infection and anti-inflammatory medications such as aspirin or corticosteroids. Because people with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, low dose antibiotics are often continued over a long period of time to prevent recurrence. |
What is (are) Meningoencephalocele ? | Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities. The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it. | 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) Meningoencephalocele ? assistant Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities. The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it. |
What causes Meningoencephalocele ? | What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition. | 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 Meningoencephalocele ? assistant What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition. |
Is Meningoencephalocele inherited ? | Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition. | 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 Meningoencephalocele inherited ? assistant Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition. |
What is (are) X-linked adrenal hypoplasia congenita ? | X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern. | 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) X-linked adrenal hypoplasia congenita ? assistant X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern. |
What are the symptoms of X-linked adrenal hypoplasia congenita ? | What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of pubertal development - Adrenal hypoplasia - Cryptorchidism - Dehydration - Delayed puberty - Failure to thrive - Hyperpigmentation of the skin - Hypocortisolemia - Hypogonadotrophic hypogonadism - Hyponatremia - Low gonadotropins (secondary hypogonadism) - Muscular dystrophy - Renal salt wasting - 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 X-linked adrenal hypoplasia congenita ? assistant What are the signs and symptoms of X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications may be life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles, delayed puberty, and an inability to father children. Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked adrenal hypoplasia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of pubertal development - Adrenal hypoplasia - Cryptorchidism - Dehydration - Delayed puberty - Failure to thrive - Hyperpigmentation of the skin - Hypocortisolemia - Hypogonadotrophic hypogonadism - Hyponatremia - Low gonadotropins (secondary hypogonadism) - Muscular dystrophy - Renal salt wasting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes X-linked adrenal hypoplasia congenita ? | What causes X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones. | 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 X-linked adrenal hypoplasia congenita ? assistant What causes X-linked adrenal hypoplasia congenita? X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones. |
Is X-linked adrenal hypoplasia congenita inherited ? | How is X-linked adrenal hypoplasia congenita inherited? X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation. | 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 X-linked adrenal hypoplasia congenita inherited ? assistant How is X-linked adrenal hypoplasia congenita inherited? X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation. |
What is (are) Schizencephaly ? | Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. | 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) Schizencephaly ? assistant Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. |
What are the symptoms of Schizencephaly ? | What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Schizencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% EEG abnormality 90% Hypertonia 90% Porencephaly 90% Strabismus 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Seizures 50% Schizencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Schizencephaly ? assistant What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Schizencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% EEG abnormality 90% Hypertonia 90% Porencephaly 90% Strabismus 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Seizures 50% Schizencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Schizencephaly ? | What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby. | 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 Schizencephaly ? assistant What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby. |
Is Schizencephaly inherited ? | Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 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 Schizencephaly inherited ? assistant Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene. |
How to diagnose Schizencephaly ? | Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis. | 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 Schizencephaly ? assistant Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis. |
What are the treatments for Schizencephaly ? | How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. | 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 Schizencephaly ? assistant How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed. |
What are the symptoms of Cleft palate X-linked ? | What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate 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) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Cleft palate X-linked ? assistant What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate 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) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ? | What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the musculature 90% Ptosis 90% Vertebral segmentation defect 90% Limitation of joint mobility 50% Sacral dimple 50% Tarsal synostosis 50% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Congenital ptosis - Posterior fusion of lumbosacral vertebrae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Vertebral fusion posterior lumbosacral blepharoptosis ? assistant What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the musculature 90% Ptosis 90% Vertebral segmentation defect 90% Limitation of joint mobility 50% Sacral dimple 50% Tarsal synostosis 50% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Congenital ptosis - Posterior fusion of lumbosacral vertebrae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Wolfram syndrome ? | Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. 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) Wolfram syndrome ? assistant Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. |
What are the symptoms of Wolfram syndrome ? | What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). About 65% of affected people will develop all four of these symptoms, while others will only have some of the associated health problems. Other signs and symptoms of Wolfram syndrome type 1 may include: Urinary tract abnormalities Ataxia (problems with coordination and balance) Loss of sense of smell Loss of gag reflex Myoclonus (muscle spasms) Peripheral neuropathy Seizures Depression Impulsive and/or aggressive behavior Psychosis Gastrointestinal problems Intellectual disability Central apnea and central respiratory failure Hypogonadism in males (reduced amounts of the sex hormone testosterone) In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries. The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram 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) Diabetes insipidus 90% Diabetes mellitus 90% Hearing impairment 90% Optic atrophy 90% Hypoglycemia 50% Incoordination 50% Nephropathy 50% Neurological speech impairment 50% Nystagmus 50% Recurrent urinary tract infections 50% Seizures 50% Visual impairment 50% Abnormality of the autonomic nervous system 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the genital system 7.5% Anemia 7.5% Apnea 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Constipation 7.5% Developmental regression 7.5% Feeding difficulties in infancy 7.5% Gastric ulcer 7.5% Gastrointestinal hemorrhage 7.5% Glaucoma 7.5% Hallucinations 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Retinopathy 7.5% Sleep disturbance 7.5% Abnormal bleeding - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blindness - Cardiomyopathy - Cerebral atrophy - Dysarthria - Dysautonomia - Dysphagia - Growth delay - Hydronephrosis - Hydroureter - Impaired collagen-induced platelet aggregation - Intellectual disability - Limited mobility of proximal interphalangeal joint - Megaloblastic anemia - Neurogenic bladder - Neutropenia - Optic neuropathy - Pigmentary retinopathy - Ptosis - Sensorineural hearing impairment - Sideroblastic anemia - Stroke-like episodes - Testicular atrophy - Thrombocytopenia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Wolfram syndrome ? assistant What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). About 65% of affected people will develop all four of these symptoms, while others will only have some of the associated health problems. Other signs and symptoms of Wolfram syndrome type 1 may include: Urinary tract abnormalities Ataxia (problems with coordination and balance) Loss of sense of smell Loss of gag reflex Myoclonus (muscle spasms) Peripheral neuropathy Seizures Depression Impulsive and/or aggressive behavior Psychosis Gastrointestinal problems Intellectual disability Central apnea and central respiratory failure Hypogonadism in males (reduced amounts of the sex hormone testosterone) In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries. The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram 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) Diabetes insipidus 90% Diabetes mellitus 90% Hearing impairment 90% Optic atrophy 90% Hypoglycemia 50% Incoordination 50% Nephropathy 50% Neurological speech impairment 50% Nystagmus 50% Recurrent urinary tract infections 50% Seizures 50% Visual impairment 50% Abnormality of the autonomic nervous system 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the genital system 7.5% Anemia 7.5% Apnea 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Constipation 7.5% Developmental regression 7.5% Feeding difficulties in infancy 7.5% Gastric ulcer 7.5% Gastrointestinal hemorrhage 7.5% Glaucoma 7.5% Hallucinations 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Retinopathy 7.5% Sleep disturbance 7.5% Abnormal bleeding - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blindness - Cardiomyopathy - Cerebral atrophy - Dysarthria - Dysautonomia - Dysphagia - Growth delay - Hydronephrosis - Hydroureter - Impaired collagen-induced platelet aggregation - Intellectual disability - Limited mobility of proximal interphalangeal joint - Megaloblastic anemia - Neurogenic bladder - Neutropenia - Optic neuropathy - Pigmentary retinopathy - Ptosis - Sensorineural hearing impairment - Sideroblastic anemia - Stroke-like episodes - Testicular atrophy - Thrombocytopenia - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Wolfram syndrome ? | What causes Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Changes (mutations) in the WFS1 gene are responsible for approximately 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, a protein that is important for the proper functioning of the endoplasmic reticulum (the part of a cell that is involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is important for many different cellular functions. Mutations in WFS1 result in a defective form of wolframin that is unable to perform its normal role. This causes cells to trigger their own death (apoptosis). The death of cells in various organs and other parts of the body results in the signs and symptoms of Wolfram syndrome type 1. A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the mitochondria (the part of the cell where energy is produced). Mutations in CISD2 lead to the loss of mitochondria which decreases the amount of energy available to cells. Cells that do not have enough energy die. As in Wolfram syndrome type 1, the death of cells in different parts of the body results in the many health problems associated with Wolfram syndrome type 2. Mutations in mitochondrial DNA may also be a rare cause of Wolfram syndrome in some families. | 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 Wolfram syndrome ? assistant What causes Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Changes (mutations) in the WFS1 gene are responsible for approximately 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, a protein that is important for the proper functioning of the endoplasmic reticulum (the part of a cell that is involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is important for many different cellular functions. Mutations in WFS1 result in a defective form of wolframin that is unable to perform its normal role. This causes cells to trigger their own death (apoptosis). The death of cells in various organs and other parts of the body results in the signs and symptoms of Wolfram syndrome type 1. A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the mitochondria (the part of the cell where energy is produced). Mutations in CISD2 lead to the loss of mitochondria which decreases the amount of energy available to cells. Cells that do not have enough energy die. As in Wolfram syndrome type 1, the death of cells in different parts of the body results in the many health problems associated with Wolfram syndrome type 2. Mutations in mitochondrial DNA may also be a rare cause of Wolfram syndrome in some families. |
Is Wolfram syndrome inherited ? | Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. 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 Wolfram syndrome inherited ? assistant Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. 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 Wolfram syndrome ? | How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. 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. | 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 Wolfram syndrome ? assistant How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. 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. |
What are the treatments for Wolfram syndrome ? | How might Wolfram syndrome be treated? Treatment of Wolfram syndrome is supportive and based on the signs and symptoms present in each person. For example, almost all affected people require insulin to treat diabetes mellitus. People with hearing loss may benefit from hearing aids or cochlear implantation. For more detailed information regarding the treatment and management of Wolfram syndrome, 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 Wolfram syndrome ? assistant How might Wolfram syndrome be treated? Treatment of Wolfram syndrome is supportive and based on the signs and symptoms present in each person. For example, almost all affected people require insulin to treat diabetes mellitus. People with hearing loss may benefit from hearing aids or cochlear implantation. For more detailed information regarding the treatment and management of Wolfram syndrome, click here. |
What is (are) Hemangiopericytoma ? | Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body. | 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) Hemangiopericytoma ? assistant Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body. |
What are the symptoms of Hemangiopericytoma ? | What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cardiovascular system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hemangiopericytoma ? assistant What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cardiovascular system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Hemangiopericytoma ? | What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides. | 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 Hemangiopericytoma ? assistant What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides. |
What are the treatments for Hemangiopericytoma ? | What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization. | 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 Hemangiopericytoma ? assistant What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization. |
What is (are) Focal dermal hypoplasia ? | Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons. | 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) Focal dermal hypoplasia ? assistant Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons. |
What are the symptoms of Focal dermal hypoplasia ? | What are the signs and symptoms of Focal dermal hypoplasia? Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities. Some of the skin findings include streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), telangiectases, and streaks of slightly darker or lighter skin. These skin features can cause pain, itching, irritation, or lead to skin infections. With age, most develop wart-like growths, called papillomas, around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Other features include small, ridged fingernails and toenails as well as sparse, brittle or absent scalp hair. The skeleton is usually affected as well. Many individuals have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, which usually do not cause symptoms. Eye abnormalities are common and can include microphthalmia and anopthalmia as well as problems with the tear ducts. The retina or the optic nerve can also be incompletely developed, which can result in a gap or split in these structures (coloboma). Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Some individuals may have a cleft lip and/or palate. About half of those with focal dermal hypoplasia have teeth abnormalities of their teeth, especially of the enamel (the hard, white material that forms the protective outer layer of each tooth). Less commonly, kidney and gastrointestinal abnormalities are present. The kidneys may be fused together, which can lead to kidney infections. The main gastrointestinal abnormality that is seen is an omphalocele. The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dermal hypoplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the nail 90% Camptodactyly of finger 90% Dermal atrophy 90% Finger syndactyly 90% Hand polydactyly 90% Hypermelanotic macule 90% Lower limb asymmetry 90% Low-set, posteriorly rotated ears 90% Reduced number of teeth 90% Rough bone trabeculation 90% Split foot 90% Split hand 90% Telangiectasia of the skin 90% Thin skin 90% Toe syndactyly 90% Verrucae 90% Abnormal localization of kidney 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the ribs 50% Alopecia 50% Aplasia/Hypoplasia of the iris 50% Choroideremia 50% Cognitive impairment 50% Dental malocclusion 50% Ectopia lentis 50% Facial asymmetry 50% Iris coloboma 50% Multicystic kidney dysplasia 50% Opacification of the corneal stroma 50% Scoliosis 50% Spina bifida 50% Strabismus 50% Abdominal pain 7.5% Abnormality of adipose tissue 7.5% Abnormality of the mediastinum 7.5% Abnormality of the pulmonary vasculature 7.5% Acute hepatic failure 7.5% Aplasia/Hypoplasia of the lungs 7.5% Congenital diaphragmatic hernia 7.5% Duodenal stenosis 7.5% Narrow nasal bridge 7.5% Neoplasm of the skeletal system 7.5% Omphalocele 7.5% Patent ductus arteriosus 7.5% Pointed chin 7.5% Renal hypoplasia/aplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Abnormality of the larynx - Abnormality of the pinna - Absent fingernail - Absent toenail - Agenesis of corpus callosum - Aniridia - Anophthalmia - Anteriorly placed anus - Arnold-Chiari malformation - Bifid ureter - Brachydactyly syndrome - Brittle hair - Broad nasal tip - Chorioretinal coloboma - Cleft ala nasi - Cleft palate - Cleft upper lip - Clitoral hypoplasia - Congenital hip dislocation - Cryptorchidism - Delayed eruption of teeth - Diastasis recti - Foot polydactyly - Hiatus hernia - Horseshoe kidney - Hydrocephalus - Hydronephrosis - Hypodontia - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint laxity - Labial hypoplasia - Linear hyperpigmentation - Low-set ears - Microcephaly - Microphthalmia - Midclavicular aplasia - Midclavicular hypoplasia - Mixed hearing impairment - Myelomeningocele - Nail dysplasia - Nystagmus - Oligodactyly (feet) - Oligodactyly (hands) - Oligodontia - Optic atrophy - Osteopathia striata - Patchy alopecia - Postaxial hand polydactyly - Reduced visual acuity - Reticular hyperpigmentation - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short ribs - Short stature - Sparse hair - Spina bifida occulta - Stenosis of the external auditory canal - Supernumerary nipple - Telangiectasia - Ureteral duplication - Visual impairment - 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 Focal dermal hypoplasia ? assistant What are the signs and symptoms of Focal dermal hypoplasia? Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities. Some of the skin findings include streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), telangiectases, and streaks of slightly darker or lighter skin. These skin features can cause pain, itching, irritation, or lead to skin infections. With age, most develop wart-like growths, called papillomas, around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Other features include small, ridged fingernails and toenails as well as sparse, brittle or absent scalp hair. The skeleton is usually affected as well. Many individuals have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, which usually do not cause symptoms. Eye abnormalities are common and can include microphthalmia and anopthalmia as well as problems with the tear ducts. The retina or the optic nerve can also be incompletely developed, which can result in a gap or split in these structures (coloboma). Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Some individuals may have a cleft lip and/or palate. About half of those with focal dermal hypoplasia have teeth abnormalities of their teeth, especially of the enamel (the hard, white material that forms the protective outer layer of each tooth). Less commonly, kidney and gastrointestinal abnormalities are present. The kidneys may be fused together, which can lead to kidney infections. The main gastrointestinal abnormality that is seen is an omphalocele. The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dermal hypoplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the nail 90% Camptodactyly of finger 90% Dermal atrophy 90% Finger syndactyly 90% Hand polydactyly 90% Hypermelanotic macule 90% Lower limb asymmetry 90% Low-set, posteriorly rotated ears 90% Reduced number of teeth 90% Rough bone trabeculation 90% Split foot 90% Split hand 90% Telangiectasia of the skin 90% Thin skin 90% Toe syndactyly 90% Verrucae 90% Abnormal localization of kidney 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the ribs 50% Alopecia 50% Aplasia/Hypoplasia of the iris 50% Choroideremia 50% Cognitive impairment 50% Dental malocclusion 50% Ectopia lentis 50% Facial asymmetry 50% Iris coloboma 50% Multicystic kidney dysplasia 50% Opacification of the corneal stroma 50% Scoliosis 50% Spina bifida 50% Strabismus 50% Abdominal pain 7.5% Abnormality of adipose tissue 7.5% Abnormality of the mediastinum 7.5% Abnormality of the pulmonary vasculature 7.5% Acute hepatic failure 7.5% Aplasia/Hypoplasia of the lungs 7.5% Congenital diaphragmatic hernia 7.5% Duodenal stenosis 7.5% Narrow nasal bridge 7.5% Neoplasm of the skeletal system 7.5% Omphalocele 7.5% Patent ductus arteriosus 7.5% Pointed chin 7.5% Renal hypoplasia/aplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Abnormality of the larynx - Abnormality of the pinna - Absent fingernail - Absent toenail - Agenesis of corpus callosum - Aniridia - Anophthalmia - Anteriorly placed anus - Arnold-Chiari malformation - Bifid ureter - Brachydactyly syndrome - Brittle hair - Broad nasal tip - Chorioretinal coloboma - Cleft ala nasi - Cleft palate - Cleft upper lip - Clitoral hypoplasia - Congenital hip dislocation - Cryptorchidism - Delayed eruption of teeth - Diastasis recti - Foot polydactyly - Hiatus hernia - Horseshoe kidney - Hydrocephalus - Hydronephrosis - Hypodontia - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint laxity - Labial hypoplasia - Linear hyperpigmentation - Low-set ears - Microcephaly - Microphthalmia - Midclavicular aplasia - Midclavicular hypoplasia - Mixed hearing impairment - Myelomeningocele - Nail dysplasia - Nystagmus - Oligodactyly (feet) - Oligodactyly (hands) - Oligodontia - Optic atrophy - Osteopathia striata - Patchy alopecia - Postaxial hand polydactyly - Reduced visual acuity - Reticular hyperpigmentation - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short ribs - Short stature - Sparse hair - Spina bifida occulta - Stenosis of the external auditory canal - Supernumerary nipple - Telangiectasia - Ureteral duplication - Visual impairment - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
Is Focal dermal hypoplasia inherited ? | How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons. We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding 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: Is Focal dermal hypoplasia inherited ? assistant How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons. We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding a genetics professional. |
What are the symptoms of Homocarnosinosis ? | What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation - Abnormality of skin pigmentation - Autosomal recessive inheritance - Carnosinuria - Intellectual disability - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Homocarnosinosis ? assistant What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation - Abnormality of skin pigmentation - Autosomal recessive inheritance - Carnosinuria - Intellectual disability - Spastic paraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
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