bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% Autosomal recessive inheritance - Cervical myelopathy - Cervical subluxation - Chondroitin sulfate excretion in urine - Constricted iliac wings - Coxa valga - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Grayish enamel - Hepatomegaly - Hypoplasia of the odontoid process - Inguinal hernia - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Mandibular prognathia - Metaphyseal widening - Osteoporosis - Ovoid vertebral bodies - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Ulnar deviation of the wrist - Widely spaced teeth - 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.
Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.
What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or "rocker bottom" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation
What causes mosaic trisomy 9? Most cases of mosaic trisomy 9 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. If an egg or sperm with an extra chromosome 9 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 9 in each cell. As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 9. In people with mosaic trisomy 9, this attempt may be partly successful, leaving some cells with an extra chromosome 9 and some cells with the extra chromosome deleted (the usual chromosome number). This correction process is called trisomy rescue. In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 9, some of the body's cells have the usual two copies of chromosome 9, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 9 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms. In rare cases, mosaic trisomy 9 is inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. If this rearrangement is considered "balanced," meaning the piece of chromosome is in a different order but no genetic material is gained or lost, it usually does not cause any symptoms or health problems. However, it can be associated with an increased risk of having children with an abnormal number or chromosomes.
Is mosaic trisomy 9  inherited? Mosaic trisomy 9 is usually not inherited. It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. In rare cases, mosaic trisomy 9 may be inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. In these cases, the parent has a "balanced" rearrangement, meaning the piece of chromosome is in a different order but no genetic material is gained or lost. Carriers of a balanced rearrangement typically to not have any symptoms or health problems. However, they may be at an increased risk of having children with an abnormal number or chromosomes.
How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood.
How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Depending on the degree of intellectual disability, a child may require special education classes. Heart defects and cleft lip and/or palate may need to be surgically repaired. Children with hydrocephalus may be treated with certain medications and/or shunting (placement of a specialized device that drains excess fluid away from the brain). Other surgeries may be recommended depending on the nature and severity of the other features (i.e. craniofacial, muscular, skeletal, kidney, and/or reproductive system problems) and their associated symptoms.
What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. 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) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall 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.
VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.
What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Premature birth 90% Tracheal stenosis 90% Tracheoesophageal fistula 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Laryngomalacia 50% Renal hypoplasia/aplasia 50% Vertebral segmentation defect 50% Abnormality of female internal genitalia 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the gallbladder 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the pancreas 7.5% Abnormality of the ribs 7.5% Abnormality of the sacrum 7.5% Anencephaly 7.5% Bifid scrotum 7.5% Cavernous hemangioma 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Encephalocele 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Multicystic kidney dysplasia 7.5% Non-midline cleft lip 7.5% Omphalocele 7.5% Preaxial hand polydactyly 7.5% Single umbilical artery 7.5% Abnormality of the nasopharynx - Abnormality of the sternum - Absent radius - Anal atresia - Choanal atresia - Ectopic kidney - Esophageal atresia - Failure to thrive - Hydronephrosis - Hypoplasia of the radius - Hypospadias - Large fontanelles - Laryngeal stenosis - Occipital encephalocele - Patent ductus arteriosus - Patent urachus - Postnatal growth retardation - Radioulnar synostosis - Renal agenesis - Renal dysplasia - Scoliosis - Short thumb - Spina bifida - Sporadic - Syndactyly - Tethered cord - Tetralogy of Fallot - Transposition of the great arteries - Triphalangeal thumb - Ureteropelvic junction obstruction - Ventricular septal defect - Vesicoureteral reflux - 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 VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA. When a condition is defined as being an "association", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature. Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a syndrome or chromosome abnormality; if this is the case, the recurrence risk for a family member would be the risk that is associated with that specific diagnosis. Genetic disorders which have features in common with VACTERL association include Feingold syndrome, CHARGE syndrome, Fanconi anemia, Townes-Brocks syndrome, and Pallister-Hall syndrome. It has also been recognized that there is a two to threefold increase in the incidence of multiple congenital malformations (with features that have overlapped with those of VACTERL association) in children of diabetic mothers.
Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition. GeneTests lists the names of laboratories that are performing genetic testing for VACTERL association. Although no clinical laboratories are listed for this condition, there are some research laboratories performing genetic testing; to see a list of these laboratories, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. How is VACTERL association diagnosed? Prenatal diagnosis of VACTERL association can be challenging because certain component features of the condition can be difficult to detect prior to birth. Therefore, the diagnosis of VACTERL association is typically based on features that are seen when a baby is born or in the first few days of life. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL): vertebral defects, commonly accompanied by rib anomalies; imperforate anus or anal atresia; cardiac (heart) defects; tracheo-esophageal fistula with or without esophageal atresia; renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities. Additional types of abnormalities have also been reported in affected individuals and may be used as clues in considering a diagnosis of other conditions with overlapping features. Depending on the features present, some other conditions that may be considered when diagnosing a child who has features of VACTERL association (differential diagnosis) may include Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral spectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus.
Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis.
What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall.  A large variety of symptoms may be associated with limbic encephalitis such as anterograde amnesia (the inability to store new memories after the onset of the condition), anxiety, depression, irritability, personality change, acute confusional state, hallucinations and seizures.  Other possible symptoms may include obsessiveness, hyperthermia (increase in body temperature), weight change, hypersomnia, endocrine dysfunction, aphasia, and apraxia.  The symptoms associated with limbic encephalitis can develop over a few days, weeks, or months.  It is important to note the neurological symptoms generally precede diagnosis of the malignancy in 60%-75% of patients that have paraneoplastic limbic encephalitis.
What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas.  Out of the various cancers linked to limbic encephalitis, the typically associated tumors are SCLC, which are present in about 40% of patients that have the paraneoplastic form of limbic encephalitis.  Seminoma are present in 25% of patients.  At a lower rate, nearly any other tumor may be associated.  Limbic encephalitis can also occur in the absence of cancer such as in the case of an viral infection and systemic autoimmune disorders.  The underlying cause of limbic encephalitis is probably an autoimmune reaction which is brought about by cancer, tumors, infections, or autoimmune disorders.
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 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.