fenil210/Med-Lamma huggingface dataset:
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. + GARD + Woolly hair syndrome
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. + GARD + Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
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. + GARD + Marshall syndrome
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. + GARD + Marshall syndrome
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. + GARD + Infectious arthritis
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. + GARD + Cold urticaria
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. + GARD + Cold urticaria
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. + GARD + Cold urticaria
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. + GARD + Cold urticaria
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. + GARD + Cold urticaria
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 + GARD + Cold urticaria
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. + GARD + Succinic acidemia
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. + GARD + Mosaic trisomy 14
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. + GARD + Mosaic trisomy 14
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. + GARD + Mosaic trisomy 14
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. + GARD + Mosaic trisomy 14
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. + GARD + Nevoid basal cell carcinoma syndrome
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. + GARD + Nevoid basal cell carcinoma syndrome
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. + GARD + Nevoid basal cell carcinoma syndrome
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. + GARD + Waardenburg syndrome type 3