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What are the symptoms of Bardet-Biedl syndrome 6 ? | What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Bardet-Biedl syndrome 6 ? assistant What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Split hand split foot nystagmus ? | Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good. | 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) Split hand split foot nystagmus ? assistant Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good. |
What are the symptoms of Split hand split foot nystagmus ? | What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Split hand split foot nystagmus ? assistant What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Split hand split foot nystagmus inherited ? | How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mothers egg or fathers sperm, or in the fertilized egg itself. In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism. | 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 Split hand split foot nystagmus inherited ? assistant How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mothers egg or fathers sperm, or in the fertilized egg itself. In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism. |
What are the symptoms of Apparent mineralocorticoid excess ? | What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Decreased circulating aldosterone level - Decreased circulating renin level - Failure to thrive - Hypertension - Hypertensive retinopathy - Hypokalemia - Metabolic alkalosis - Short stature - Small for gestational age - 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 Apparent mineralocorticoid excess ? assistant What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Decreased circulating aldosterone level - Decreased circulating renin level - Failure to thrive - Hypertension - Hypertensive retinopathy - Hypokalemia - Metabolic alkalosis - Short stature - Small for gestational age - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Kosztolanyi syndrome ? | What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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 palate 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Kosztolanyi syndrome ? assistant What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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 palate 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Epithelial basement membrane corneal dystrophy ? | Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have 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 is (are) Epithelial basement membrane corneal dystrophy ? assistant Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have been identified. |
What are the symptoms of Epithelial basement membrane corneal dystrophy ? | What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life. It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints. Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Epithelial basement membrane corneal 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) Autosomal dominant inheritance - Corneal dystrophy - Map-dot-fingerprint corneal dystrophy - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Epithelial basement membrane corneal dystrophy ? assistant What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life. It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints. Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Epithelial basement membrane corneal 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) Autosomal dominant inheritance - Corneal dystrophy - Map-dot-fingerprint corneal dystrophy - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Epithelial basement membrane corneal dystrophy ? | How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it, or prescribe lubricating eye drops and ointments. With treatment, these erosions usually heal within three days, although periodic flashes of pain may occur for several weeks thereafter. Other treatments include anterior corneal punctures to allow better adherence of cells; corneal scraping to remove eroded areas of the cornea and allow regeneration of healthy epithelial tissue; and use of the excimer laser to remove surface irregularities. An article from eMedicine Journal provides additional information on treatment for epithelial basement membrane corneal dystrophy at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1193945-treatment#showall | 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 Epithelial basement membrane corneal dystrophy ? assistant How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it, or prescribe lubricating eye drops and ointments. With treatment, these erosions usually heal within three days, although periodic flashes of pain may occur for several weeks thereafter. Other treatments include anterior corneal punctures to allow better adherence of cells; corneal scraping to remove eroded areas of the cornea and allow regeneration of healthy epithelial tissue; and use of the excimer laser to remove surface irregularities. An article from eMedicine Journal provides additional information on treatment for epithelial basement membrane corneal dystrophy at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1193945-treatment#showall |
What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | 17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal 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) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? assistant 17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern. |
What are the symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | What are the signs and symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-beta hydroxysteroid dehydrogenase 3 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 90% Cryptorchidism 90% Decreased fertility 90% Gynecomastia 90% Male pseudohermaphroditism 90% Hypothyroidism 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Infertility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 17-beta hydroxysteroid dehydrogenase 3 deficiency ? assistant What are the signs and symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-beta hydroxysteroid dehydrogenase 3 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 90% Cryptorchidism 90% Decreased fertility 90% Gynecomastia 90% Male pseudohermaphroditism 90% Hypothyroidism 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Infertility - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Brody myopathy ? | Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not 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 is (are) Brody myopathy ? assistant Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified. |
What are the symptoms of Brody myopathy ? | What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather. In people with Brody disease, the term pseudomyotonia is used to describe these muscle symptoms. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. Because of the normal EMG results, the word pseudo-myotonia is used. In addition to the pseudomyotonia, people with Brody disease sometimes develop myoglobinuria. Myoglobinuria is the abnormal breakdown of the muscle protein, myoglobin. Click here to learn more about testing for myoglobinuria. People with Brody disease do not tend to have percussion myotonia. A doctor may test for percussion myotonia by mildly tapping on a muscle and watching how the muscle responds. Percussion myotonia is a symptom in other muscle disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Brody myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Brody myopathy ? assistant What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather. In people with Brody disease, the term pseudomyotonia is used to describe these muscle symptoms. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. Because of the normal EMG results, the word pseudo-myotonia is used. In addition to the pseudomyotonia, people with Brody disease sometimes develop myoglobinuria. Myoglobinuria is the abnormal breakdown of the muscle protein, myoglobin. Click here to learn more about testing for myoglobinuria. People with Brody disease do not tend to have percussion myotonia. A doctor may test for percussion myotonia by mildly tapping on a muscle and watching how the muscle responds. Percussion myotonia is a symptom in other muscle disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Brody myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Brody myopathy ? | What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins. The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction. Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction. Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this 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 Brody myopathy ? assistant What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins. The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction. Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction. Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this disease. |
How to diagnose Brody myopathy ? | How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca ATPase) can also help 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 Brody myopathy ? assistant How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca ATPase) can also help confirm the diagnosis. |
What are the treatments for Brody myopathy ? | How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. | 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 Brody myopathy ? assistant How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. |
What is (are) Familial progressive cardiac conduction defect ? | Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes, can cause PCCD. Several other genes may be the cause when PCCD occurs with congenital heart disease. Familial PCCD is usually inherited in an autosomal dominant manner. However, not all people that have the mutated gene will have the condition; in those that do, symptoms and severity can vary (known as reduced penetrance and variable expressivity). Autosomal recessive inheritance and sporadic cases have been reported, but are rare. Treatment includes implantation of a pacemaker. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Familial progressive cardiac conduction defect ? assistant Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes, can cause PCCD. Several other genes may be the cause when PCCD occurs with congenital heart disease. Familial PCCD is usually inherited in an autosomal dominant manner. However, not all people that have the mutated gene will have the condition; in those that do, symptoms and severity can vary (known as reduced penetrance and variable expressivity). Autosomal recessive inheritance and sporadic cases have been reported, but are rare. Treatment includes implantation of a pacemaker. |
What are the symptoms of Familial progressive cardiac conduction defect ? | What are the signs and symptoms of Familial progressive cardiac conduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial progressive cardiac conduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Familial progressive cardiac conduction defect ? assistant What are the signs and symptoms of Familial progressive cardiac conduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial progressive cardiac conduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Orofaciodigital syndrome 2 ? | Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient. | 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) Orofaciodigital syndrome 2 ? assistant Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient. |
What are the symptoms of Orofaciodigital syndrome 2 ? | What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips) Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes) Finger and toe findings Clinobrachydactyly (narrow, short fingers and toes) Syndactyly (fused fingers and toes) Polydactyly (presence of more than five fingers on hands and/or five toes on feet) Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings Conductive hearing loss Central nervous system impairments (porencephaly and hydrocephaly) Heart defects (atrioventricular canal [endocardial cushion] defects) The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Bifid tongue 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Finger syndactyly 90% Postaxial hand polydactyly 90% Short stature 90% Telecanthus 90% Wide nasal bridge 90% Clinodactyly of the 5th finger 75% Preaxial foot polydactyly 75% Abnormality of the metaphyses 50% Accessory oral frenulum 50% Bifid nasal tip 50% Broad nasal tip 50% Depressed nasal bridge 50% Flared metaphysis 50% Hypoplasia of the maxilla 50% Lobulated tongue 50% Malar flattening 50% Median cleft lip 50% Metaphyseal irregularity 50% Midline defect of the nose 50% Reduced number of teeth 50% Tongue nodules 50% Postaxial foot polydactyly 33% Preaxial hand polydactyly 33% Abnormality of the cranial nerves 7.5% Abnormality of the genital system 7.5% Abnormality of the metacarpal bones 7.5% Agenesis of central incisor 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% High palate 7.5% Hydrocephalus 7.5% Laryngomalacia 7.5% Pectus excavatum 7.5% Porencephaly 7.5% Scoliosis 7.5% Seizures 7.5% Syndactyly 7.5% Tracheal stenosis 7.5% Wormian bones 7.5% Autosomal recessive inheritance - Bilateral postaxial polydactyly - Hypertelorism - Partial duplication of the phalanges of the hallux - Short palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Orofaciodigital syndrome 2 ? assistant What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips) Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes) Finger and toe findings Clinobrachydactyly (narrow, short fingers and toes) Syndactyly (fused fingers and toes) Polydactyly (presence of more than five fingers on hands and/or five toes on feet) Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings Conductive hearing loss Central nervous system impairments (porencephaly and hydrocephaly) Heart defects (atrioventricular canal [endocardial cushion] defects) The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Bifid tongue 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Finger syndactyly 90% Postaxial hand polydactyly 90% Short stature 90% Telecanthus 90% Wide nasal bridge 90% Clinodactyly of the 5th finger 75% Preaxial foot polydactyly 75% Abnormality of the metaphyses 50% Accessory oral frenulum 50% Bifid nasal tip 50% Broad nasal tip 50% Depressed nasal bridge 50% Flared metaphysis 50% Hypoplasia of the maxilla 50% Lobulated tongue 50% Malar flattening 50% Median cleft lip 50% Metaphyseal irregularity 50% Midline defect of the nose 50% Reduced number of teeth 50% Tongue nodules 50% Postaxial foot polydactyly 33% Preaxial hand polydactyly 33% Abnormality of the cranial nerves 7.5% Abnormality of the genital system 7.5% Abnormality of the metacarpal bones 7.5% Agenesis of central incisor 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% High palate 7.5% Hydrocephalus 7.5% Laryngomalacia 7.5% Pectus excavatum 7.5% Porencephaly 7.5% Scoliosis 7.5% Seizures 7.5% Syndactyly 7.5% Tracheal stenosis 7.5% Wormian bones 7.5% Autosomal recessive inheritance - Bilateral postaxial polydactyly - Hypertelorism - Partial duplication of the phalanges of the hallux - Short palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Orofaciodigital syndrome 2 ? | What causes orofaciodigital syndrome type 2? Orofaciodigital syndrome type 2 is caused by mutations (changes) of an as yet unidentified gene. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Orofaciodigital syndrome 2 ? assistant What causes orofaciodigital syndrome type 2? Orofaciodigital syndrome type 2 is caused by mutations (changes) of an as yet unidentified gene. |
Is Orofaciodigital syndrome 2 inherited ? | How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have 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 Orofaciodigital syndrome 2 inherited ? assistant How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition. |
What are the treatments for Orofaciodigital syndrome 2 ? | What treatment is available for orofaciodigital syndrome type 2? Treatment is dependent on the symptoms. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Orofaciodigital syndrome 2 ? assistant What treatment is available for orofaciodigital syndrome type 2? Treatment is dependent on the symptoms. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities. |
What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Miller syndrome ? assistant Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner. |
What are the symptoms of Miller syndrome ? | What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Cleft eyelid 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Supernumerary nipple 90% Camptodactyly of finger 50% Conductive hearing impairment 50% Finger syndactyly 50% Non-midline cleft lip 50% Strabismus 7.5% Abnormality of the foot - Abnormality of the kidney - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Congenital hip dislocation - Conical tooth - Cryptorchidism - Cupped ear - Ectropion - Hypoplasia of the radius - Hypoplasia of the ulna - Low-set ears - Malar flattening - Micropenis - Midgut malrotation - Pectus excavatum - Postnatal growth retardation - Pyloric stenosis - Radioulnar synostosis - Short thumb - Supernumerary vertebrae - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Miller syndrome ? assistant What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Cleft eyelid 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Supernumerary nipple 90% Camptodactyly of finger 50% Conductive hearing impairment 50% Finger syndactyly 50% Non-midline cleft lip 50% Strabismus 7.5% Abnormality of the foot - Abnormality of the kidney - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Congenital hip dislocation - Conical tooth - Cryptorchidism - Cupped ear - Ectropion - Hypoplasia of the radius - Hypoplasia of the ulna - Low-set ears - Malar flattening - Micropenis - Midgut malrotation - Pectus excavatum - Postnatal growth retardation - Pyloric stenosis - Radioulnar synostosis - Short thumb - Supernumerary vertebrae - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Dwarfism, proportionate with hip dislocation ? | What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Hip dislocation - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dwarfism, proportionate with hip dislocation ? assistant What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Hip dislocation - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Gray platelet syndrome ? | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Gray platelet syndrome ? assistant Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner. |
What are the symptoms of Gray platelet syndrome ? | What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Gray platelet 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 coagulation 90% Bruising susceptibility 90% Thrombocytopenia 90% Abnormality of the menstrual cycle 50% Epistaxis 50% Myelodysplasia 50% Splenomegaly 50% Autosomal dominant inheritance - Autosomal recessive inheritance - Impaired collagen-induced platelet aggregation - Impaired thrombin-induced platelet aggregation - Menorrhagia - Myelofibrosis - Progressive - Prolonged bleeding time - Reduced quantity of Von Willebrand factor - Reduced von Willebrand factor activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Gray platelet syndrome ? assistant What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Gray platelet 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 coagulation 90% Bruising susceptibility 90% Thrombocytopenia 90% Abnormality of the menstrual cycle 50% Epistaxis 50% Myelodysplasia 50% Splenomegaly 50% Autosomal dominant inheritance - Autosomal recessive inheritance - Impaired collagen-induced platelet aggregation - Impaired thrombin-induced platelet aggregation - Menorrhagia - Myelofibrosis - Progressive - Prolonged bleeding time - Reduced quantity of Von Willebrand factor - Reduced von Willebrand factor activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Gray platelet syndrome ? | How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. Prognosis is generally good early in life when thrombocytopenia is mild. Those with platelets counts less than 30,000/microliter are at risk for life-threatening bleeding. | 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 Gray platelet syndrome ? assistant How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. Prognosis is generally good early in life when thrombocytopenia is mild. Those with platelets counts less than 30,000/microliter are at risk for life-threatening bleeding. |
What are the symptoms of Familial partial lipodystrophy associated with PPARG mutations ? | What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 lipid metabolism 90% Abnormality of the menstrual cycle 90% Diabetes mellitus 90% Hypertension 90% Insulin resistance 90% Acanthosis nigricans 50% Hepatic steatosis 50% Hyperuricemia 50% Cirrhosis 7.5% Coronary artery disease 7.5% Hypertrichosis 7.5% Polycystic ovaries 7.5% Toxemia of pregnancy 7.5% Abnormality of the face - Abnormality of the musculature - Abnormality of the neck - Autosomal dominant inheritance - Decreased subcutaneous fat - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Insulin-resistant diabetes mellitus - Lipodystrophy - Loss of gluteal subcutaneous adipose tissue - Loss of subcutaneous adipose tissue in limbs - Maternal diabetes - Oligomenorrhea - Preeclampsia - Primary amenorrhea - Prominent superficial veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Familial partial lipodystrophy associated with PPARG mutations ? assistant What are the signs and symptoms of Familial partial lipodystrophy associated with PPARG mutations? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial partial lipodystrophy associated with PPARG mutations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 lipid metabolism 90% Abnormality of the menstrual cycle 90% Diabetes mellitus 90% Hypertension 90% Insulin resistance 90% Acanthosis nigricans 50% Hepatic steatosis 50% Hyperuricemia 50% Cirrhosis 7.5% Coronary artery disease 7.5% Hypertrichosis 7.5% Polycystic ovaries 7.5% Toxemia of pregnancy 7.5% Abnormality of the face - Abnormality of the musculature - Abnormality of the neck - Autosomal dominant inheritance - Decreased subcutaneous fat - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Insulin-resistant diabetes mellitus - Lipodystrophy - Loss of gluteal subcutaneous adipose tissue - Loss of subcutaneous adipose tissue in limbs - Maternal diabetes - Oligomenorrhea - Preeclampsia - Primary amenorrhea - Prominent superficial veins - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal 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) Pyruvate carboxylase deficiency ? assistant Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern. |
What are the symptoms of Pyruvate carboxylase deficiency ? | What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Clonus - Congenital onset - Hepatomegaly - Hyperalaninemia - Hypoglycemia - Increased serum lactate - Increased serum pyruvate - Intellectual disability - Lactic acidosis - Muscular hypotonia - Neuronal loss in the cerebral cortex - Periventricular leukomalacia - Proximal renal tubular acidosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Pyruvate carboxylase deficiency ? assistant What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Clonus - Congenital onset - Hepatomegaly - Hyperalaninemia - Hypoglycemia - Increased serum lactate - Increased serum pyruvate - Intellectual disability - Lactic acidosis - Muscular hypotonia - Neuronal loss in the cerebral cortex - Periventricular leukomalacia - Proximal renal tubular acidosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
Is Pyruvate carboxylase deficiency inherited ? | How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for 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 an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with 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 Pyruvate carboxylase deficiency inherited ? assistant How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for 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 an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional. |
What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? | What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 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 Microcephaly brain defect spasticity hypernatremia ? assistant What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Kallmann syndrome 6 ? | What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia 7.5% Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Kallmann syndrome 6 ? assistant What are the signs and symptoms of Kallmann syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia 7.5% Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ? | What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Arthritis - Autosomal recessive inheritance - Cerebral hypomyelination - Chronic gastritis - CNS hypomyelination - Corpus callosum atrophy - Diarrhea - Dysphagia - Eczema - Elevated erythrocyte sedimentation rate - Failure to thrive - Generalized tonic-clonic seizures - Horizontal nystagmus - IgG deficiency - Inflammation of the large intestine - Leukoencephalopathy - Muscular hypotonia - Neutropenia - Postnatal microcephaly - Recurrent infections - Severe global developmental delay - Spastic tetraparesis - Ventriculomegaly - 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 Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ? assistant What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Arthritis - Autosomal recessive inheritance - Cerebral hypomyelination - Chronic gastritis - CNS hypomyelination - Corpus callosum atrophy - Diarrhea - Dysphagia - Eczema - Elevated erythrocyte sedimentation rate - Failure to thrive - Generalized tonic-clonic seizures - Horizontal nystagmus - IgG deficiency - Inflammation of the large intestine - Leukoencephalopathy - Muscular hypotonia - Neutropenia - Postnatal microcephaly - Recurrent infections - Severe global developmental delay - Spastic tetraparesis - Ventriculomegaly - 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 is (are) Lyme disease ? | Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center for Disease Control and Prevention's Web site for a more comprehensive list of symptoms. Lyme disease is caused by the bacterium Borrelia burgdorferi, which is transmitted to humans through the bite of infected blacklegged ticks. Certain features of the condition, including whether or not an affected person will develop medication-resistant chronic arthritis, is thought to be influenced by genetic factors (certain human leukocyte antigen genes). Treatment generally includes antibiotics to address the bacterial infection and other medications (i.e. pain medications) to relieve 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) Lyme disease ? assistant Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center for Disease Control and Prevention's Web site for a more comprehensive list of symptoms. Lyme disease is caused by the bacterium Borrelia burgdorferi, which is transmitted to humans through the bite of infected blacklegged ticks. Certain features of the condition, including whether or not an affected person will develop medication-resistant chronic arthritis, is thought to be influenced by genetic factors (certain human leukocyte antigen genes). Treatment generally includes antibiotics to address the bacterial infection and other medications (i.e. pain medications) to relieve symptoms. |
What are the symptoms of Lyme disease ? | What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme 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) Hypermelanotic macule 90% Arthritis 50% Cranial nerve paralysis 50% Joint swelling 50% Meningitis 50% Abnormality of temperature regulation 7.5% Amaurosis fugax 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Arthralgia 7.5% Encephalitis 7.5% Inflammatory abnormality of the eye 7.5% Insomnia 7.5% Memory impairment 7.5% Migraine 7.5% Muscle weakness 7.5% Myalgia 7.5% Nausea and vomiting 7.5% Paresthesia 7.5% Photophobia 7.5% Skin rash 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 Lyme disease ? assistant What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme 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) Hypermelanotic macule 90% Arthritis 50% Cranial nerve paralysis 50% Joint swelling 50% Meningitis 50% Abnormality of temperature regulation 7.5% Amaurosis fugax 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Arthralgia 7.5% Encephalitis 7.5% Inflammatory abnormality of the eye 7.5% Insomnia 7.5% Memory impairment 7.5% Migraine 7.5% Muscle weakness 7.5% Myalgia 7.5% Nausea and vomiting 7.5% Paresthesia 7.5% Photophobia 7.5% Skin rash 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 Palmoplantar keratoderma, epidermolytic ? | What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Verrucae 90% Abnormality of the fingernails 50% Eczema 50% Hyperhidrosis 50% Autosomal dominant inheritance - Increased IgE level - Localized epidermolytic hyperkeratosis - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Palmoplantar keratoderma, epidermolytic ? assistant What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Verrucae 90% Abnormality of the fingernails 50% Eczema 50% Hyperhidrosis 50% Autosomal dominant inheritance - Increased IgE level - Localized epidermolytic hyperkeratosis - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Bilateral frontal polymicrogyria ? | Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. 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) Bilateral frontal polymicrogyria ? assistant Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. |
What is (are) GM1 gangliosidosis type 2 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently 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) GM1 gangliosidosis type 2 ? assistant GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive. |
What are the symptoms of GM1 gangliosidosis type 2 ? | What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis 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) Abnormality of the face - Abnormality of the liver - Abnormality of the spleen - Ataxia - Autosomal recessive inheritance - Cerebral atrophy - Coxa valga - Gait disturbance - Generalized myoclonic seizures - Optic atrophy - Platyspondyly - Progressive psychomotor deterioration - Sea-blue histiocytosis - Spastic tetraplegia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 GM1 gangliosidosis type 2 ? assistant What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis 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) Abnormality of the face - Abnormality of the liver - Abnormality of the spleen - Ataxia - Autosomal recessive inheritance - Cerebral atrophy - Coxa valga - Gait disturbance - Generalized myoclonic seizures - Optic atrophy - Platyspondyly - Progressive psychomotor deterioration - Sea-blue histiocytosis - Spastic tetraplegia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Limited systemic sclerosis ? | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction which leads to the overproduction of collagen (a tough protein which normally strengthens and supports connective tissues throughout the body). When fibrosis affects internal organs, it can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction). | 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) Limited systemic sclerosis ? assistant Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction which leads to the overproduction of collagen (a tough protein which normally strengthens and supports connective tissues throughout the body). When fibrosis affects internal organs, it can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction). |
What is (are) Junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections. | 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) Junctional epidermolysis bullosa ? assistant Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections. |
What are the symptoms of Junctional epidermolysis bullosa ? | What are the signs and symptoms of Junctional epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Junctional epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Abnormality of the stomach 50% Duodenal stenosis 50% Pruritus 50% Subcutaneous hemorrhage 50% Alopecia 7.5% Anemia 7.5% Corneal erosion 7.5% Dehydration 7.5% Finger syndactyly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Laryngeal cyst 7.5% Limitation of joint mobility 7.5% Nausea and vomiting 7.5% Onycholysis 7.5% Polyhydramnios 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sepsis 7.5% Skin ulcer 7.5% Toe syndactyly 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 Junctional epidermolysis bullosa ? assistant What are the signs and symptoms of Junctional epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Junctional epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Abnormality of the stomach 50% Duodenal stenosis 50% Pruritus 50% Subcutaneous hemorrhage 50% Alopecia 7.5% Anemia 7.5% Corneal erosion 7.5% Dehydration 7.5% Finger syndactyly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Laryngeal cyst 7.5% Limitation of joint mobility 7.5% Nausea and vomiting 7.5% Onycholysis 7.5% Polyhydramnios 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sepsis 7.5% Skin ulcer 7.5% Toe syndactyly 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 Male pseudohermaphroditism due to defective LH molecule ? | What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Decreased testosterone in males - Male hypogonadism - Male infertility - Male pseudohermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Male pseudohermaphroditism due to defective LH molecule ? assistant What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Decreased testosterone in males - Male hypogonadism - Male infertility - Male pseudohermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Fitzsimmons-Guilbert syndrome ? | What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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 metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Pectus carinatum 90% Short stature 90% Abnormality of the palate 50% Abnormality of thumb phalanx 50% Finger syndactyly 50% Autosomal recessive inheritance - Babinski sign - Broad hallux - Broad thumb - Cone-shaped epiphyses of the phalanges of the hand - Decreased body weight - Dysarthria - Enuresis nocturna - Feeding difficulties in infancy - High palate - Malar flattening - Narrow face - Nasal speech - Pectus excavatum - Pes planus - Progressive spastic paraplegia - Scissor gait - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Fitzsimmons-Guilbert syndrome ? assistant What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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 metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Pectus carinatum 90% Short stature 90% Abnormality of the palate 50% Abnormality of thumb phalanx 50% Finger syndactyly 50% Autosomal recessive inheritance - Babinski sign - Broad hallux - Broad thumb - Cone-shaped epiphyses of the phalanges of the hand - Decreased body weight - Dysarthria - Enuresis nocturna - Feeding difficulties in infancy - High palate - Malar flattening - Narrow face - Nasal speech - Pectus excavatum - Pes planus - Progressive spastic paraplegia - Scissor gait - Short finger - Short metacarpal - Short metatarsal - Short phalanx of finger - Short toe - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Hemophilia B ? | Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hemophilia B ? assistant Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene. |
What are the symptoms of Hemophilia B ? | What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - 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 Hemophilia B ? assistant What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Myeloperoxidase deficiency ? | What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Abnormality of the immune 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 Myeloperoxidase deficiency ? assistant What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Abnormality of the immune 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 is (are) Primrose syndrome ? | Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the condition is currently unknown. Treatment is 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) Primrose syndrome ? assistant Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the condition is currently unknown. Treatment is supportive. |
What are the symptoms of Primrose syndrome ? | What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearing loss Pogressive ataxia (uncoordinated movement) often with onset in Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Primrose syndrome ? assistant What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearing loss Pogressive ataxia (uncoordinated movement) often with onset in Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Primrose syndrome ? | What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. | 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 Primrose syndrome ? assistant What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. |
What are the symptoms of Charcot-Marie-Tooth disease type 2N ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Peripheral axonal neuropathy - Pes cavus - Skeletal muscle atrophy - 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 Charcot-Marie-Tooth disease type 2N ? assistant What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Peripheral axonal neuropathy - Pes cavus - Skeletal muscle atrophy - 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) Young syndrome ? | Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent levels of sperm in semen) . The condition is usually diagnosed in middle-aged men who undergo evaluation for infertility. Although the exact cause has not been identified, it is believed to be a genetic condition. At this time, there is no known effective treatment or cure for Young syndrome. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Young syndrome ? assistant Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent levels of sperm in semen) . The condition is usually diagnosed in middle-aged men who undergo evaluation for infertility. Although the exact cause has not been identified, it is believed to be a genetic condition. At this time, there is no known effective treatment or cure for Young syndrome. |
What are the symptoms of Young syndrome ? | What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young 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) Decreased fertility 90% Recurrent respiratory infections 90% Abnormality of the pancreas 50% Autosomal recessive inheritance - Azoospermia - Bronchiectasis - Congenital cystic adenomatoid malformation of the lung - Recurrent bronchitis - Recurrent sinopulmonary infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Young syndrome ? assistant What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young 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) Decreased fertility 90% Recurrent respiratory infections 90% Abnormality of the pancreas 50% Autosomal recessive inheritance - Azoospermia - Bronchiectasis - Congenital cystic adenomatoid malformation of the lung - Recurrent bronchitis - Recurrent sinopulmonary infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Subaortic stenosis short stature syndrome ? | What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature 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 aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Subaortic stenosis short stature syndrome ? assistant What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature 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 aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of 20p12.3 microdeletion syndrome ? | What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 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 20p12.3 microdeletion syndrome ? assistant What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner. Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hereditary sensory and autonomic neuropathy type V ? assistant Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner. Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury. |
What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? | What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anhidrosis 7.5% Episodic fever 5% Intellectual disability, mild 5% Acral ulceration and osteomyelitis leading to autoamputation of digits - Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) - Autosomal recessive inheritance - Infantile onset - Pain insensitivity - Painless fractures due to injury - Self-mutilation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? assistant What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anhidrosis 7.5% Episodic fever 5% Intellectual disability, mild 5% Acral ulceration and osteomyelitis leading to autoamputation of digits - Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) - Autosomal recessive inheritance - Infantile onset - Pain insensitivity - Painless fractures due to injury - Self-mutilation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Rhabdoid tumor ? | Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdomen mass, peripheral nerve palsy). In about 90% of the cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the SMARCA4 gene. No standard care exists for RT although there are a lot of studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings they are considered now identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors. | 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) Rhabdoid tumor ? assistant Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdomen mass, peripheral nerve palsy). In about 90% of the cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the SMARCA4 gene. No standard care exists for RT although there are a lot of studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings they are considered now identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors. |
What are the symptoms of Rhabdoid tumor ? | What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nausea and vomiting 90% Neoplasm of the nervous system 90% Abdominal pain 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Abnormality of the skin 50% Behavioral abnormality 50% Cerebral palsy 50% Cranial nerve paralysis 50% Hematuria 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Hypertension 50% Incoordination 50% Limitation of joint mobility 50% Lymphadenopathy 50% Macrocephaly 50% Migraine 50% Muscle weakness 50% Neoplasm of the liver 50% Ophthalmoparesis 50% Renal neoplasm 50% Respiratory insufficiency 50% Sarcoma 50% Seizures 50% Sleep disturbance 50% Weight loss 50% Anemia 7.5% Cerebral calcification 7.5% Hypercalcemia 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Choroid plexus carcinoma - Medulloblastoma - Neoplasm of the central nervous system - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Rhabdoid tumor ? assistant What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nausea and vomiting 90% Neoplasm of the nervous system 90% Abdominal pain 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Abnormality of the skin 50% Behavioral abnormality 50% Cerebral palsy 50% Cranial nerve paralysis 50% Hematuria 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Hypertension 50% Incoordination 50% Limitation of joint mobility 50% Lymphadenopathy 50% Macrocephaly 50% Migraine 50% Muscle weakness 50% Neoplasm of the liver 50% Ophthalmoparesis 50% Renal neoplasm 50% Respiratory insufficiency 50% Sarcoma 50% Seizures 50% Sleep disturbance 50% Weight loss 50% Anemia 7.5% Cerebral calcification 7.5% Hypercalcemia 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Choroid plexus carcinoma - Medulloblastoma - Neoplasm of the central nervous system - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Chiari malformation type 3 ? | What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Chiari malformation type 3 ? assistant What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Pyogenic granuloma ? | Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and childhood, but may also be observed in adults, particularly in pregnant women. Small pyogenic granulomas may go away on their own. Larger lesions are treated with surgery, electrocautery, freezing, or lasers. | 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) Pyogenic granuloma ? assistant Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and childhood, but may also be observed in adults, particularly in pregnant women. Small pyogenic granulomas may go away on their own. Larger lesions are treated with surgery, electrocautery, freezing, or lasers. |
What are the symptoms of Woolly hair syndrome ? | What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair 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) Fine hair 90% Woolly hair 90% Hypopigmentation of hair 50% Slow-growing hair 50% Abnormal hair quantity 7.5% Abnormality of the pupil 7.5% Abnormality of the retinal vasculature 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cataract 7.5% Strabismus 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 Woolly hair syndrome ? assistant What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair 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) Fine hair 90% Woolly hair 90% Hypopigmentation of hair 50% Slow-growing hair 50% Abnormal hair quantity 7.5% Abnormality of the pupil 7.5% Abnormality of the retinal vasculature 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cataract 7.5% Strabismus 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 Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ? | What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ? assistant What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Marshall syndrome ? | Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion. | 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) Marshall syndrome ? assistant Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion. |
What are the symptoms of Marshall syndrome ? | What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Aplasia/Hypoplasia involving the nose 90% Arthralgia 90% Depressed nasal bridge 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Malar flattening 90% Myopia 90% Sensorineural hearing impairment 90% Short stature 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Abnormality of the vitreous humor 50% Cleft palate 50% Craniofacial hyperostosis 50% Genu valgum 50% Glaucoma 50% Hypohidrosis 50% Osteoarthritis 50% Proptosis 50% Retinal detachment 50% Visual impairment 50% Aplasia/Hypoplasia of the eyebrow 7.5% Frontal bossing 7.5% Nystagmus 7.5% Absent frontal sinuses - Autosomal dominant inheritance - Calcification of falx cerebri - Congenital cataract - Coxa valga - Epicanthus - Esotropia - Flat midface - Hypoplastic ilia - Irregular distal femoral epiphysis - Irregular proximal tibial epiphyses - Lens luxation - Low-set ears - Macrodontia of permanent maxillary central incisor - Meningeal calcification - Pierre-Robin sequence - Platyspondyly - Radial bowing - Short nose - Small distal femoral epiphysis - Small proximal tibial epiphyses - Thick upper lip vermilion - Thickened calvaria - Ulnar bowing - Vitreoretinal degeneration - Wide tufts of distal phalanges - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Marshall syndrome ? assistant What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares 90% Aplasia/Hypoplasia involving the nose 90% Arthralgia 90% Depressed nasal bridge 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Malar flattening 90% Myopia 90% Sensorineural hearing impairment 90% Short stature 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Abnormality of the vitreous humor 50% Cleft palate 50% Craniofacial hyperostosis 50% Genu valgum 50% Glaucoma 50% Hypohidrosis 50% Osteoarthritis 50% Proptosis 50% Retinal detachment 50% Visual impairment 50% Aplasia/Hypoplasia of the eyebrow 7.5% Frontal bossing 7.5% Nystagmus 7.5% Absent frontal sinuses - Autosomal dominant inheritance - Calcification of falx cerebri - Congenital cataract - Coxa valga - Epicanthus - Esotropia - Flat midface - Hypoplastic ilia - Irregular distal femoral epiphysis - Irregular proximal tibial epiphyses - Lens luxation - Low-set ears - Macrodontia of permanent maxillary central incisor - Meningeal calcification - Pierre-Robin sequence - Platyspondyly - Radial bowing - Short nose - Small distal femoral epiphysis - Small proximal tibial epiphyses - Thick upper lip vermilion - Thickened calvaria - Ulnar bowing - Vitreoretinal degeneration - Wide tufts of distal phalanges - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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) Infectious arthritis ? | Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself. In reactive arthritis, joint inflammation develops weeks, months or even years after the infection. Reactive arthritis happens most commonly after infections of the genital and gastrointestinal tracts. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes 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) Infectious arthritis ? assistant Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself. In reactive arthritis, joint inflammation develops weeks, months or even years after the infection. Reactive arthritis happens most commonly after infections of the genital and gastrointestinal tracts. To diagnose infectious arthritis, your health care provider may do tests of your blood, urine, and joint fluid. Treatment includes medicines and sometimes surgery. |
What is (are) Cold urticaria ? | Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or 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) Cold urticaria ? assistant Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications. |
What are the symptoms of Cold urticaria ? | What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and lasts for 1-2 hours. Other signs and symptoms may include: Headache Anxiety Tiredness Fainting Heart palpitations Wheezing Joint pain Low blood pressure In very severe cases, exposure to cold could lead to loss of consciousness, shock or even death. | 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 Cold urticaria ? assistant What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and lasts for 1-2 hours. Other signs and symptoms may include: Headache Anxiety Tiredness Fainting Heart palpitations Wheezing Joint pain Low blood pressure In very severe cases, exposure to cold could lead to loss of consciousness, shock or even death. |
What causes Cold urticaria ? | What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis. | 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 Cold urticaria ? assistant What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis. |
Is Cold urticaria inherited ? | Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history 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: Is Cold urticaria inherited ? assistant Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. |
How to diagnose Cold urticaria ? | How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in which a cold object (such as an ice cube) is applied against the skin of the forearm for 1-5 minutes. In people affected by cold urticaria, a distinct red and swollen rash will generally develop within minutes of exposure. A complete blood count and/or metabolic tests may also be performed to determine associated diseases. | 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 Cold urticaria ? assistant How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in which a cold object (such as an ice cube) is applied against the skin of the forearm for 1-5 minutes. In people affected by cold urticaria, a distinct red and swollen rash will generally develop within minutes of exposure. A complete blood count and/or metabolic tests may also be performed to determine associated diseases. |
What are the treatments for Cold urticaria ? | How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. Additionally, affected people are often told to carry an epinephrine autoinjector due to the increased risk of anaphylaxis. Several other therapies have reportedly been used to treat cold urticaria with varying degrees of success. These include: Leukotriene antagonists Ciclosporin Systemic corticosteroids Dapsone Oral antibiotics Synthetic hormones Danazol | 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 Cold urticaria ? assistant How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. Additionally, affected people are often told to carry an epinephrine autoinjector due to the increased risk of anaphylaxis. Several other therapies have reportedly been used to treat cold urticaria with varying degrees of success. These include: Leukotriene antagonists Ciclosporin Systemic corticosteroids Dapsone Oral antibiotics Synthetic hormones Danazol |
What are the symptoms of Succinic acidemia ? | What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Lactic acidosis - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | 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 Succinic acidemia ? assistant What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Lactic acidosis - Respiratory distress - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Mosaic trisomy 14 ? | Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. | 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 14 ? assistant Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. |
What are the symptoms of Mosaic trisomy 14 ? | What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have fewer and/or less severe symptoms than those with a high percentage of affected cells. Some of the more commonly reported characteristics of the condition include: intrauterine growth restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal skin pigmentation structural defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics such as a prominent forehead; widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the mouth (palate) Skeletal abnormalities have also been reported and include dislocation of the hips; overlapping of certain fingers or toes; and/or other features. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Frontal bossing 90% Prominent nasal bridge 90% Short neck 90% Short stature 90% Wide mouth 90% Anteverted nares 50% Blepharophimosis 50% Cleft palate 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Ectopic anus 50% Hypertelorism 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Seizures 50% Single transverse palmar crease 50% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Camptodactyly of finger 7.5% Lower limb asymmetry 7.5% Ptosis 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 Mosaic trisomy 14 ? assistant What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have fewer and/or less severe symptoms than those with a high percentage of affected cells. Some of the more commonly reported characteristics of the condition include: intrauterine growth restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal skin pigmentation structural defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics such as a prominent forehead; widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the mouth (palate) Skeletal abnormalities have also been reported and include dislocation of the hips; overlapping of certain fingers or toes; and/or other features. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Frontal bossing 90% Prominent nasal bridge 90% Short neck 90% Short stature 90% Wide mouth 90% Anteverted nares 50% Blepharophimosis 50% Cleft palate 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Ectopic anus 50% Hypertelorism 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Seizures 50% Single transverse palmar crease 50% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Camptodactyly of finger 7.5% Lower limb asymmetry 7.5% Ptosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Mosaic trisomy 14 ? | What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic trisomy 14 appear to result from random errors in the separation of chromosomes (nondisjunction) -- either during the division of the egg or sperm in one of the parents, or during cell division after fertilization. There have been some reports in which it may have occurred due to other phenomenon, such as uniparental disomy or the formation of an isochromosome. Uniparental disomy is when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. Unique has a leaflet on their Web site that contains additional descriptions and illustrations of how mosaic trisomy 14 may occur. Click here to view the leaflet. | 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 14 ? assistant What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic trisomy 14 appear to result from random errors in the separation of chromosomes (nondisjunction) -- either during the division of the egg or sperm in one of the parents, or during cell division after fertilization. There have been some reports in which it may have occurred due to other phenomenon, such as uniparental disomy or the formation of an isochromosome. Uniparental disomy is when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. Unique has a leaflet on their Web site that contains additional descriptions and illustrations of how mosaic trisomy 14 may occur. Click here to view the leaflet. |
What are the treatments for Mosaic trisomy 14 ? | How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be treated aggressively and early. Some infants and children with the condition may need surgical repair of certain craniofacial, genital, or other abnormalities. Early intervention may be important in ensuring that children with the reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. | 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 14 ? assistant How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be treated aggressively and early. Some infants and children with the condition may need surgical repair of certain craniofacial, genital, or other abnormalities. Early intervention may be important in ensuring that children with the reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services. |
What is (are) Nevoid basal cell carcinoma syndrome ? | Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Nevoid basal cell carcinoma syndrome ? assistant Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene. |
What are the symptoms of Nevoid basal cell carcinoma syndrome ? | What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads) skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae) medulloblastoma (childhood brain tumor) in about 5% of affected children multiple jaw keratocysts (usually in the second decade of life) basal cell carcinoma sebaceous and dermoid cysts cardiac and ovarian fibromas The Human Phenotype Ontology provides the following list of signs and symptoms for Nevoid basal cell carcinoma 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) Bone cyst 90% Melanocytic nevus 90% Neoplasm of the skin 90% Osteolysis 90% Sacrococcygeal pilonidal abnormality 90% Skin ulcer 90% Abnormal form of the vertebral bodies 50% Abnormality of the neck 50% Brachydactyly syndrome 50% Frontal bossing 50% Intestinal polyposis 50% Macrocephaly 50% Palmoplantar keratoderma 50% Polycystic ovaries 50% Scoliosis 50% Spina bifida occulta 50% Wide nasal bridge 50% Abnormality of dental enamel 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the metacarpal bones 7.5% Abnormality of the pleura 7.5% Abnormality of the ribs 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arachnodactyly 7.5% Bronchogenic cyst 7.5% Carious teeth 7.5% Cataract 7.5% Chorea 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Glioma 7.5% Gynecomastia 7.5% Hand polydactyly 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Mandibular prognathia 7.5% Medulloblastoma 7.5% Meningioma 7.5% Neoplasm of the heart 7.5% Nystagmus 7.5% Optic nerve coloboma 7.5% Oral cleft 7.5% Ovarian neoplasm 7.5% Proptosis 7.5% Renal cyst 7.5% Sarcoma 7.5% Seizures 7.5% Strabismus 7.5% Tall stature 7.5% Telecanthus 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Intellectual disability 5% Abnormality of the sternum - Autosomal dominant inheritance - Basal cell carcinoma - Bifid ribs - Bridged sella turcica - Calcification of falx cerebri - Cardiac fibroma - Cardiac rhabdomyoma - Cleft palate - Cleft upper lip - Coarse facial features - Down-sloping shoulders - Hamartomatous stomach polyps - Hemivertebrae - Heterogeneous - Irregular ossification of hand bones - Kyphoscoliosis - Microphthalmia - Milia - Motor delay - Odontogenic keratocysts of the jaw - Orbital cyst - Ovarian fibroma - Palmar pits - Parietal bossing - Plantar pits - Polydactyly - Short 4th metacarpal - Short distal phalanx of the thumb - Short ribs - Skin tags - Spina bifida - Sprengel anomaly - Supernumerary ribs - Variable expressivity - Vertebral fusion - Vertebral wedging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Nevoid basal cell carcinoma syndrome ? assistant What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads) skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae) medulloblastoma (childhood brain tumor) in about 5% of affected children multiple jaw keratocysts (usually in the second decade of life) basal cell carcinoma sebaceous and dermoid cysts cardiac and ovarian fibromas The Human Phenotype Ontology provides the following list of signs and symptoms for Nevoid basal cell carcinoma 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) Bone cyst 90% Melanocytic nevus 90% Neoplasm of the skin 90% Osteolysis 90% Sacrococcygeal pilonidal abnormality 90% Skin ulcer 90% Abnormal form of the vertebral bodies 50% Abnormality of the neck 50% Brachydactyly syndrome 50% Frontal bossing 50% Intestinal polyposis 50% Macrocephaly 50% Palmoplantar keratoderma 50% Polycystic ovaries 50% Scoliosis 50% Spina bifida occulta 50% Wide nasal bridge 50% Abnormality of dental enamel 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the metacarpal bones 7.5% Abnormality of the pleura 7.5% Abnormality of the ribs 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arachnodactyly 7.5% Bronchogenic cyst 7.5% Carious teeth 7.5% Cataract 7.5% Chorea 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Glioma 7.5% Gynecomastia 7.5% Hand polydactyly 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Mandibular prognathia 7.5% Medulloblastoma 7.5% Meningioma 7.5% Neoplasm of the heart 7.5% Nystagmus 7.5% Optic nerve coloboma 7.5% Oral cleft 7.5% Ovarian neoplasm 7.5% Proptosis 7.5% Renal cyst 7.5% Sarcoma 7.5% Seizures 7.5% Strabismus 7.5% Tall stature 7.5% Telecanthus 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Intellectual disability 5% Abnormality of the sternum - Autosomal dominant inheritance - Basal cell carcinoma - Bifid ribs - Bridged sella turcica - Calcification of falx cerebri - Cardiac fibroma - Cardiac rhabdomyoma - Cleft palate - Cleft upper lip - Coarse facial features - Down-sloping shoulders - Hamartomatous stomach polyps - Hemivertebrae - Heterogeneous - Irregular ossification of hand bones - Kyphoscoliosis - Microphthalmia - Milia - Motor delay - Odontogenic keratocysts of the jaw - Orbital cyst - Ovarian fibroma - Palmar pits - Parietal bossing - Plantar pits - Polydactyly - Short 4th metacarpal - Short distal phalanx of the thumb - Short ribs - Skin tags - Spina bifida - Sprengel anomaly - Supernumerary ribs - Variable expressivity - Vertebral fusion - Vertebral wedging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Nevoid basal cell carcinoma syndrome inherited ? | How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone. As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS. | 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 Nevoid basal cell carcinoma syndrome inherited ? assistant How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone. As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS. |
What are the treatments for Nevoid basal cell carcinoma syndrome ? | How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detected early enough, it may be treated by surgery and chemotherapy. Jaw keratocysts usually need to be surgically removed. Early treatment of basal cell carcinomas is necessary to prevent long-term cosmetic problems, particularly on the face. Surgical removal is often supplemented by other treatments such as cryotherapy, laser treatment, and/or photodynamic therapy. Radiation therapy is not recommended because it can provoke the development of more tumors. Some people may need long term treatment with oral retinoids such as isotretinoin or acitretin. Cardiac fibromas may not cause symptoms, but they should be monitored by a cardiologist. If ovarian fibromas need surgical treatment, it is typically recommended that ovarian tissue is preserved even though it involves a risk of 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 Nevoid basal cell carcinoma syndrome ? assistant How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detected early enough, it may be treated by surgery and chemotherapy. Jaw keratocysts usually need to be surgically removed. Early treatment of basal cell carcinomas is necessary to prevent long-term cosmetic problems, particularly on the face. Surgical removal is often supplemented by other treatments such as cryotherapy, laser treatment, and/or photodynamic therapy. Radiation therapy is not recommended because it can provoke the development of more tumors. Some people may need long term treatment with oral retinoids such as isotretinoin or acitretin. Cardiac fibromas may not cause symptoms, but they should be monitored by a cardiologist. If ovarian fibromas need surgical treatment, it is typically recommended that ovarian tissue is preserved even though it involves a risk of recurrence. |
What are the symptoms of Waardenburg syndrome type 3 ? | What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Finger syndactyly 90% Hearing impairment 90% Limitation of joint mobility 90% Microcephaly 90% Narrow nasal bridge 90% Synostosis of carpal bones 90% Tented upper lip vermilion 90% Thick eyebrow 90% Atelectasis 50% Hypopigmentation of hair 50% Telecanthus 50% Acrocyanosis 7.5% Atria septal defect 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Hypertonia 7.5% Tracheomalacia 7.5% Aganglionic megacolon - Autosomal dominant contiguous gene syndrome - Autosomal recessive inheritance - Blue irides - Brachydactyly syndrome - Carpal synostosis - Clinodactyly - Cutaneous finger syndactyly - Heterochromia iridis - Hypopigmented skin patches - Intellectual disability - Mandibular prognathia - Partial albinism - Premature graying of hair - Prominent nasal bridge - Scapular winging - Sensorineural hearing impairment - Spastic paraplegia - Synophrys - Variable expressivity - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Waardenburg syndrome type 3 ? assistant What are the signs and symptoms of Waardenburg syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Finger syndactyly 90% Hearing impairment 90% Limitation of joint mobility 90% Microcephaly 90% Narrow nasal bridge 90% Synostosis of carpal bones 90% Tented upper lip vermilion 90% Thick eyebrow 90% Atelectasis 50% Hypopigmentation of hair 50% Telecanthus 50% Acrocyanosis 7.5% Atria septal defect 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Hypertonia 7.5% Tracheomalacia 7.5% Aganglionic megacolon - Autosomal dominant contiguous gene syndrome - Autosomal recessive inheritance - Blue irides - Brachydactyly syndrome - Carpal synostosis - Clinodactyly - Cutaneous finger syndactyly - Heterochromia iridis - Hypopigmented skin patches - Intellectual disability - Mandibular prognathia - Partial albinism - Premature graying of hair - Prominent nasal bridge - Scapular winging - Sensorineural hearing impairment - Spastic paraplegia - Synophrys - Variable expressivity - White forelock - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Microphthalmia syndromic 8 ? | What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Microphthalmia syndromic 8 ? assistant What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 PPM-X syndrome ? | What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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) Behavioral abnormality 90% Cognitive impairment 90% Hypertonia 90% Macroorchidism 90% EEG abnormality 50% Gait disturbance 50% Macrotia 50% Seizures 50% Abnormality of the cardiovascular system 7.5% Developmental regression 7.5% Scoliosis 7.5% Abnormality of the teeth - Ataxia - Babinski sign - Bruxism - Choreoathetosis - Delayed speech and language development - Drooling - Excessive salivation - Facial hypotonia - High palate - Hyperreflexia - Intellectual disability, mild - Microcephaly - Parkinsonism - Pes cavus - Psychosis - Short neck - Shuffling gait - Slow progression - Spastic gait - Tremor - 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 PPM-X syndrome ? assistant What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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) Behavioral abnormality 90% Cognitive impairment 90% Hypertonia 90% Macroorchidism 90% EEG abnormality 50% Gait disturbance 50% Macrotia 50% Seizures 50% Abnormality of the cardiovascular system 7.5% Developmental regression 7.5% Scoliosis 7.5% Abnormality of the teeth - Ataxia - Babinski sign - Bruxism - Choreoathetosis - Delayed speech and language development - Drooling - Excessive salivation - Facial hypotonia - High palate - Hyperreflexia - Intellectual disability, mild - Microcephaly - Parkinsonism - Pes cavus - Psychosis - Short neck - Shuffling gait - Slow progression - Spastic gait - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What are the symptoms of Van Bogaert-Hozay syndrome ? | What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay 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 hair - Abnormality of the pinna - Astigmatism - Autosomal recessive inheritance - Depressed nasal bridge - Distal ulnar hypoplasia - Intellectual disability, mild - Misalignment of teeth - Myopia - Osteolytic defects of the phalanges of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Van Bogaert-Hozay syndrome ? assistant What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay 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 hair - Abnormality of the pinna - Astigmatism - Autosomal recessive inheritance - Depressed nasal bridge - Distal ulnar hypoplasia - Intellectual disability, mild - Misalignment of teeth - Myopia - Osteolytic defects of the phalanges of the hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What is (are) Juvenile retinoschisis ? | Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some 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) Juvenile retinoschisis ? assistant Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern. Low-vision aids can be helpful. Surgery may be needed for some complications. |
What are the symptoms of Juvenile retinoschisis ? | What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 electroretinogram 90% Abnormality of eye movement 90% Cataract 90% Chorioretinal coloboma 90% Glaucoma 90% Chorioretinal atrophy - Cystic retinal degeneration - Progressive visual loss - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Retinal atrophy - Retinal detachment - Retinoschisis - 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 Juvenile retinoschisis ? assistant What are the signs and symptoms of Juvenile retinoschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile retinoschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 electroretinogram 90% Abnormality of eye movement 90% Cataract 90% Chorioretinal coloboma 90% Glaucoma 90% Chorioretinal atrophy - Cystic retinal degeneration - Progressive visual loss - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Retinal atrophy - Retinal detachment - Retinoschisis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
What causes Juvenile retinoschisis ? | What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together). RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision. Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Juvenile retinoschisis ? assistant What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together). RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision. Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown. |
Is Juvenile retinoschisis inherited ? | How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition 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 striking 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 (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Juvenile retinoschisis inherited ? assistant How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition 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 striking 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 (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known. |
What are the treatments for Juvenile retinoschisis ? | What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. Surgery may be required to address the infrequent complications of vitreous hemorrhage and retinal detachment. Affected individuals should avoid high-contact sports and other activities that can cause head trauma to reduce risk of retinal detachment and vitreous hemorrhage. | 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 Juvenile retinoschisis ? assistant What treatment is available for juvenile retinoschisis? There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. Surgery may be required to address the infrequent complications of vitreous hemorrhage and retinal detachment. Affected individuals should avoid high-contact sports and other activities that can cause head trauma to reduce risk of retinal detachment and vitreous hemorrhage. |
What are the symptoms of Distal myopathy with vocal cord weakness ? | What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - 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 Distal myopathy with vocal cord weakness ? assistant What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - 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) Freeman Sheldon syndrome ? | Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically). | 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) Freeman Sheldon syndrome ? assistant Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically). |
What are the symptoms of Freeman Sheldon syndrome ? | What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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 teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Freeman Sheldon syndrome ? assistant What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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 teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
How to diagnose Freeman Sheldon syndrome ? | How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosis can be made through clinical genetic testing. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. | 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 Freeman Sheldon syndrome ? assistant How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosis can be made through clinical genetic testing. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. |
What is (are) Steatocystoma multiplex ? | Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be caused by mutations in the KRT17 gene and appears to be inherited in an autosomal dominant manner. Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation. | 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) Steatocystoma multiplex ? assistant Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be caused by mutations in the KRT17 gene and appears to be inherited in an autosomal dominant manner. Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation. |
What are the symptoms of Steatocystoma multiplex ? | What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as well.The cysts are typically filled with a yellowish to white, oily fluid, and occasionally have hair within them. The cysts can become infected and may cause pain and scarring. The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenoma sebaceum 90% Nephrolithiasis 7.5% Autosomal dominant inheritance - Steatocystoma multiplex - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Steatocystoma multiplex ? assistant What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as well.The cysts are typically filled with a yellowish to white, oily fluid, and occasionally have hair within them. The cysts can become infected and may cause pain and scarring. The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenoma sebaceum 90% Nephrolithiasis 7.5% Autosomal dominant inheritance - Steatocystoma multiplex - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Steatocystoma multiplex ? | What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family. In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified. Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth. | 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 Steatocystoma multiplex ? assistant What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is due to a gene mutation that was not inherited, but occurred for the first time in the affected individual. A sporadic condition may also be non-genetic and occur by chance, in which case it is not likely to recur in a family. In many sporadic cases of steatocystoma multiplex, mutations in the KRT17 gene have not been identified. Cases of steatocystoma multiplex have also been reported in association with pachyonychia congenita, acrokeratosis verruciformis, hypertrophic lichen planus, hypohidrosis, hidradenitis suppurativa, and natal teeth. |
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