fenil210/Med-Lamma huggingface dataset:
What causes Down syndrome ?
What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person.  In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunction." When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. Mosaic trisomy 21. In about 1-2% of cases, only some of the cells in a person's body have an extra chromosome 21; this is called "mosaic trisomy 21".  In this situation, the fertilized egg may have the right number of chromosomes, but due to a cell division error early in the development of the embryo, some cells "acquire" an extra chromosome 21. A person with mosaic trisomy 21 typically has 46 chromosomes in some cells, and 47 chromosomes (with the extra chromosome 21) in others. The features and severity in people with mosaic trisomy 21 may vary widely.  Translocation trisomy 21. About 3-4% of people with Down syndrome have cells that contain 46 chromosomes; however, there is extra chromosome 21 material attached (translocated ) onto another chromosome.  For parents of a child with Down syndrome due to a translocation, there may be an increased chance of Down syndrome in future pregnancies. This is because one of the two parents may be a carrier of a balanced translocation. However, not all parents of people with translocation trisomy 21 have a translocation. Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome. + GARD + Down syndrome
How to diagnose Down syndrome ?
How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the likelihood that a fetus has Down syndrome. It may show that a fetus is at an increased risk to be affected, but cannot determine whether it is definitely affected. Screening tests for Down syndrome may involve different types of blood tests for the mother and/or specific types of ultrasounds that can detect features more common in fetuses with Down syndrome (called markers). Depending on the type of screening tests a woman has, they may be done during the 1st trimester, the 2nd trimester, or both. If a screening test shows an increased risk for Down syndrome, a woman may then choose to have a diagnostic test. Diagnostic tests during pregnancy can determine with certainty whether a fetus has Down syndrome, but they are invasive and carry a slight risk of miscarriage. Examples of diagnostic tests include chorionic villus sampling in the 1st trimester and amniocentesis in the 2nd trimester. During these tests, a small sample of genetic material is obtained from the amniotic fluid or placenta, and the fetus' chromosomes are then analyzed in a laboratory. In recent years, non-invasive prenatal testing (NIPT) has become available to women who are at increased risk to have a baby with Down syndrome. NIPT is a blood test that examines DNA from the fetus in the mother's bloodstream. However, women who have a positive NIPT result should then have invasive diagnostic testing to confirm the result. People with questions about the different options for prenatal screening or diagnostic testing should speak with a genetic counselor. A genetic counselor can discuss the benefits, limitations and risks of each test, and help each person decide which test (if any) is best for them. If a diagnosis of Down syndrome is not made prenatally, the diagnosis can be made in the newborn. Down syndrome may be suspected if a newborn has characteristic physical features of the condition. The diagnosis can then be confirmed by obtaining a karyotype (a blood test to look at a picture of the newborn's chromosomes). + GARD + Down syndrome
What are the treatments for Down syndrome ?
How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improving learning, memory, and speech. Other treatments depend on the specific health problems or complications present in each affected person. The Research Down syndrome Foundation have a webpage with information about active reseach projects. + GARD + Down syndrome
What is (are) Hypoplastic right heart syndrome ?
Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart. + GARD + Hypoplastic right heart syndrome
What are the symptoms of Keratosis, seborrheic ?
What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Verrucae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Keratosis, seborrheic
What are the symptoms of Trichothiodystrophy nonphotosensitive ?
What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Trichothiodystrophy nonphotosensitive
What is (are) Brittle cornea syndrome ?
Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. + GARD + Brittle cornea syndrome
What are the symptoms of Brittle cornea syndrome ?
What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal dystrophy 90% Decreased corneal thickness 90% Myopia 90% Atypical scarring of skin 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Gait disturbance 50% Joint hypermobility 50% Myalgia 50% Reduced bone mineral density 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormality of epiphysis morphology 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the teeth 7.5% Cleft palate 7.5% Corneal erosion 7.5% Glaucoma 7.5% Hernia 7.5% Recurrent fractures 7.5% Retinal detachment 7.5% Scoliosis 7.5% Flat cornea 5% Inguinal hernia 5% Megalocornea 5% Sclerocornea 5% Umbilical hernia 5% Autosomal recessive inheritance - Congenital hip dislocation - Dentinogenesis imperfecta - Disproportionate tall stature - Epicanthus - Hearing impairment - Joint laxity - Keratoconus - Keratoglobus - Macrocephaly - Mitral valve prolapse - Molluscoid pseudotumors - Palmoplantar cutis laxa - Red hair - Spondylolisthesis - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Brittle cornea syndrome
What are the symptoms of Megalocornea-intellectual disability syndrome ?
What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Cognitive impairment 90% Frontal bossing 90% Megalocornea 90% Muscular hypotonia 90% Neurological speech impairment 90% Abnormality of the anterior chamber 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the iris 50% Epicanthus 50% Genu varum 50% Hypertelorism 50% Joint hypermobility 50% Kyphosis 50% Myopia 50% Open mouth 50% Scoliosis 50% Seizures 50% Short stature 50% Stereotypic behavior 50% Talipes 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of lipid metabolism 7.5% Abnormality of the pinna 7.5% Astigmatism 7.5% EEG abnormality 7.5% Hypothyroidism 7.5% Incoordination 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Reduced bone mineral density 7.5% Sensorineural hearing impairment 7.5% Short philtrum 7.5% Underdeveloped supraorbital ridges 7.5% Hypercholesterolemia 5% Osteopenia 5% Arachnodactyly - Ataxia - Autosomal recessive inheritance - Cupped ear - Delayed CNS myelination - Depressed nasal bridge - Dysphagia - Genu recurvatum - Genu valgum - High palate - Hypoplasia of the iris - Intellectual disability - Iridodonesis - Large fleshy ears - Long philtrum - Low anterior hairline - Pes planus - Poor coordination - Primary hypothyroidism - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Megalocornea-intellectual disability syndrome
What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ?
What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Ichthyosis 90% Neurological speech impairment 90% Gait disturbance 50% Autosomal recessive inheritance - Ectropion - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Ichthyosis alopecia eclabion ectropion mental retardation
What are the symptoms of Facial ectodermal dysplasia ?
What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Aplasia/Hypoplasia of the skin 90% Chin dimple 90% Depressed nasal ridge 90% Downturned corners of mouth 90% Prematurely aged appearance 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the eyelashes 50% Abnormality of the upper urinary tract 50% Epicanthus 50% Highly arched eyebrow 50% Short philtrum 50% Sparse lateral eyebrow 50% Urogenital fistula 50% Cafe-au-lait spot 7.5% Hypopigmented skin patches 7.5% Lacrimation abnormality 7.5% Strabismus 7.5% Absent eyelashes - Aged leonine appearance - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Depressed nasal bridge - Ectodermal dysplasia - Multiple rows of eyelashes - Periorbital fullness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Facial ectodermal dysplasia
What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene. + GARD + Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ?
How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene. + GARD + Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?
How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain). + GARD + Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
What is (are) MYH7-related scapuloperoneal myopathy ?
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive. + GARD + MYH7-related scapuloperoneal myopathy