Druvith/transformed_medDataset huggingface dataset:
What are the treatments for Isovaleric acidemia ? 
 How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.
What is (are) Malignant peripheral nerve sheath tumor ? 
 A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue.  The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation.  MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung.  Treatment of MPNST begins with surgery to remove as much of the tumor as possible.  Radiation therapy may be used to decrease the chance of a recurrence.  Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis.  MPNSTs are quite rare, occurring in 0.001% of the general population.  Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ? 
 BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ? 
 What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer 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) Autosomal dominant inheritance - Breast carcinoma - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Mandibulofacial dysostosis with microcephaly ? 
 Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.
What causes Mandibulofacial dysostosis with microcephaly ? 
 What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.
Is Mandibulofacial dysostosis with microcephaly inherited ? 
 How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.
How to diagnose Mandibulofacial dysostosis with microcephaly ? 
 Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.
What are the treatments for Mandibulofacial dysostosis with microcephaly ? 
 How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.
What is (are) Rett syndrome ? 
 Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.
What are the symptoms of Rett syndrome ? 
 What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Developmental regression 90% Gait disturbance 90% Neurological speech impairment 90% Stereotypic behavior 90% Abnormality of the eye 50% Cerebral cortical atrophy 50% Hypertonia 50% Incoordination 50% Kyphosis 50% Muscle weakness 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormality of the autonomic nervous system 7.5% Apnea 7.5% Arrhythmia 7.5% Autism 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Microcephaly 7.5% Reduced bone mineral density 7.5% Self-injurious behavior 7.5% Skeletal muscle atrophy 7.5% Abnormality of the teeth - Autistic behavior - Bruxism - Cachexia - Constipation - Dystonia - EEG abnormality - EKG: T-wave abnormalities - Gait apraxia - Gait ataxia - Gastroesophageal reflux - Intellectual disability, profound - Intermittent hyperventilation - Motor deterioration - Postnatal microcephaly - Prolonged QTc interval - Short foot - Short stature - Spasticity - Truncal ataxia - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Rett syndrome ? 
 What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain. Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.
Is Rett syndrome inherited ? 
 Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.
What is (are) Peters plus syndrome ? 
 Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features.  The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities such as glaucoma and cataracts are common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.
What causes Peters plus syndrome ? 
 Is there anything that I might have done that could have caused or prevented Peters plus syndrome? No. Peters plus syndrome is genetic; therefore, there is nothing you or your partner could have done to cause or to prevent the syndrome.
Is Peters plus syndrome inherited ? 
 How is Peters plus syndrome inherited? Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. Parents of individuals with the condition typically do not show signs and symptoms of Peters plus syndrome.
How to diagnose Peters plus syndrome ? 
 Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. To learn more about the various options available to you, we recommend you work with your health care provider or a genetics professional to contact the laboratories offering prenatal testing.
What are the treatments for Peters plus syndrome ? 
 What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examination Kidney examination Head examination Thyroid testing Hearing assessment Assessment by a ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Agents, like corticosteroids, should be avoided, as they increase the risk of glaucoma.
What is (are) Chromosome 4q deletion ? 
 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Chromosome 4q deletion ? 
 What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities
What causes Chromosome 4q deletion ? 
 What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people: BMP3 - skeletal abnormalities and short stature SEC31A - distinctive craniofacial features PKD2 - kidney abnormalities GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) ANK2, HAND2 - heart defects and/or arrhythmias FGF2 - limb (arms and legs) abnormalities Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.
Is Chromosome 4q deletion inherited ? 
 How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.
How to diagnose Chromosome 4q deletion ? 
 How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
What are the treatments for Chromosome 4q deletion ? 
 How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
What are the symptoms of Coxa vara, congenital ? 
 What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. 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 - Coxa vara - 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.