bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, late-onset localized junctional, with mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth - Autosomal recessive inheritance - Cleft palate - Dystrophic toenail - Intellectual disability - Late onset - Lens subluxation - Mandibular prognathia - Short philtrum - Thick upper lip vermilion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 cardiac septa - Abnormality of the larynx - Abnormality of the ureter - Abnormality of the uterus - Accessory spleen - Adrenal hypoplasia - Agenesis of corpus callosum - Ambiguous genitalia, female - Ambiguous genitalia, male - Anal atresia - Anencephaly - Arnold-Chiari malformation - Asplenia - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Breech presentation - Cerebellar hypoplasia - Cerebral hypoplasia - Cleft palate - Cleft upper lip - Clinodactyly - Coarctation of aorta - Cryptorchidism - Dandy-Walker malformation - Elevated amniotic fluid alpha-fetoprotein - External genital hypoplasia - Foot polydactyly - Hydrocephalus - Hypertelorism - Hypoplasia of the bladder - Hypotelorism - Intestinal malrotation - Intrauterine growth retardation - Iris coloboma - Large placenta - Lobulated tongue - Low-set ears - Microcephaly - Microphthalmia - Natal tooth - Occipital encephalocele - Olfactory lobe agenesis - Oligohydramnios - Omphalocele - Patent ductus arteriosus - Polycystic kidney dysplasia - Postaxial hand polydactyly - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Short neck - Single umbilical artery - Sloping forehead - Splenomegaly - Syndactyly - Talipes - Webbed neck - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
What are the signs and symptoms of Hanhart syndrome? The signs and symptoms of Hanhart syndrome vary, but may include: Small mouth Short, incompletely developed tongue (hypoglossia) Absent, partially missing, or shortened fingers and/or toes Jaw abnormalities such as micrognathia, retrognathia (receding jaw), or partially missing mandible (lower jaw) High-arched, narrow, or cleft palate Absent or unusually formed arms and/or legs Missing teeth Absence of major salivary glands Some infants with Hanhart syndrome may be born with paralysis of certain areas of the face. If the tongue and/or mouth are affected, this can worsen feeding difficulties that are already present due to the craniofacial abnormalities listed above. The severity of the physical abnormalities associated with Hanhart syndrome varies greatly among affected people, and children with this disorder often have some, but not all, of the symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Hanhart 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) Narrow mouth 90% Upper limb phocomelia 90% Abnormality of the fingernails 50% Brachydactyly syndrome 50% Cleft palate 50% Finger syndactyly 50% Reduced number of teeth 50% Short distal phalanx of finger 50% Split hand 50% Telecanthus 50% Wide nasal bridge 50% Abnormality of the cranial nerves 7.5% Cognitive impairment 7.5% Facial asymmetry 7.5% Gastroschisis 7.5% Neurological speech impairment 7.5% Urogenital fistula 7.5% Abnormality of oral frenula - Adactyly - Aglossia - Autosomal dominant inheritance - Epicanthus - Microglossia - Retrognathia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. Possible environmental factors including: Exposure of the pregnant mother to radiation, teratogenic medications, or hypothermia Trauma or disrupted blood flow to the baby in the womb Chorionic villus sampling procedures (when performed too early in the pregnancy)
How is Hanhart syndrome treated? Because Hanhart syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies because it depends on the signs and symptoms present in each person. For example, limb and/or craniofacial abnormalities may be treated with surgery and/or prostheses. Affected children may also need speech therapy, physical therapy, and/or occupational therapy.
What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 - Cholestasis - Edema - Generalized amyloid deposition - Hematuria - Hepatomegaly - Hypertension - Nephropathy - Nephrotic syndrome - Proteinuria - Skin rash - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Bone cyst 50% Glomerulopathy 50% Hypercalcemia 50% Hyperparathyroidism 50% Proteinuria 50% Renal insufficiency 50% Anemia 7.5% Autosomal recessive inheritance - Nephropathy - Parathyroid hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.
What are the signs and symptoms of Nonbullous congenital ichthyosiform erythroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nonbullous congenital ichthyosiform erythroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypohidrosis 90% Ectropion 5% Short finger 5% Short toe 5% Small nail 5% Thin nail 5% Abnormality of the hair - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Congenital nonbullous ichthyosiform erythroderma - External genital hypoplasia - Growth delay - Intellectual disability - Palmoplantar keratoderma - Paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another 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 might nonbullous congenital ichthyosiform erythroderma be treated? There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated. As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin. For individuals with severe skin involvement, oral retinoid therapy may be recommended. However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age. In general, any agents that irritate the skin should be avoided. Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist. ClinicalTrials.gov provides access to information on clinical studies (including therapies) for different types of ichthyosis. To view a list of the studies currently listed, click here.
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 motor nerve conduction velocity - Difficulty running - Distal muscle weakness - Distal sensory impairment - Frequent falls - Hyporeflexia - Limb muscle weakness - Motor delay - Pes cavus - Phenotypic variability - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown and then slowly fade away, over weeks to months. There have been no systemic symptoms reported with pigmented purpuric eruption. The Human Phenotype Ontology provides the following list of signs and symptoms for Pigmented purpuric eruption. If the information is available, the table below includes how often the symptom is seen in people with this condition. You 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 skin - Autosomal dominant inheritance - Neonatal onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by Cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. Most cases are caused by changes (mutations) in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated tumors and/or prophylactic surgeries.
What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that is unable to carry out its normal role. This leads to the development of the various tumors and cancers associated with Cowden syndrome. Rarely, Cowden syndrome is caused by mutations in KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown.
How is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Cowden syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cause Cowden syndrome can be considered. GeneReviews offers more detailed information regarding the diagnosis of Cowden syndrome including the clinical diagnostic criteria. Click here to view this resource. The PTEN Cleveland Clinic Risk Calculator can be used to estimate the chance of finding a PTEN mutation in children and adults with signs and symptoms of Cowden syndrome. Is genetic testing available for Cowden syndrome? Yes, genetic testing is available for many of the genes known to cause Cowden syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Cancer Screening for Women Breast self exams beginning at age 18 Clinical breast exams every 6-12 months beginning at age 25** Annual mammogram and breast MRI beginning at age 30-35** Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35 Prophylactic surgeries may be considered as a preventative option for some forms of cancer Cancer Screening for Men and Women Annual physical examination beginning at age 18** Annual thyroid ultrasound beginning at age 18** Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified) Consider renal (kidney) ultrasound every 1-2 years beginning at age 40 **or individualized based on the earliest diagnosis of cancer in the family GeneReviews offers more specific information on the treatment and management of Cowden syndrome. To access this resource, please click here.