Druvith/medqa1 huggingface dataset:
Question:  Is Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 inherited ?
Answer: If my daughter inherits BPES from me, will she definitely have the same type as me, or could she have the other type? More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (characterized by eyelid malformations and premature ovarian failure (POF)), while mutations that result in an extra long FOXL2 protein may cause BPES type II (which involves only eyelid malformations). However, in a study published in 2003 in the American Journal of Human Genetics, the authors discussed how their study was the first to demonstrate intra- and interfamilial phenotypic variability (i.e. both BPES types caused by the same mutation). They discuss how assigning an affected family a diagnosis of either BPES type I or II is not always possible because of this. The article also discusses a previous report of menstrual abnormalities and reduced female fertility in two families with BPES type II, suggesting overlap between both BPES types, as well as a report of a family with BPES type I in which the first generations of affected females are infertile while three affected young women in the youngest generation appear to have normal pelvic ultrasound and hormone levels. They do caution that in this family, the early age of the affected women may preclude an accurate prediction of whether they will have POF, since the onset of POF usually occurs at a later age. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown, and therefore there is no information on whether there may be variation within families for these affected individuals.
Question:  What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?
Answer: How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a "Y-V canthoplasty" is traditionally used; if the epicanthal folds are severe, a "double Z-plasty" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance.   For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here. Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association.
Question:  What is (are) Oculofaciocardiodental syndrome ?
Answer: Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.
Question:  What are the symptoms of Diffuse cutaneous mastocytosis ?
Answer: What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. 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 blistering of the skin 90% Mastocytosis 90% Abnormality of skin pigmentation 50% Hypotension 50% Impaired temperature sensation 50% Pruritus 50% Subcutaneous hemorrhage 50% Thickened skin 50% Urticaria 50% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Immunologic hypersensitivity 7.5% Leukemia 7.5% Malabsorption 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.
Question:  What is (are) Adult neuronal ceroid lipofuscinosis ?
Answer: Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms: Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.
Question:  What are the symptoms of Adult neuronal ceroid lipofuscinosis ?
Answer: What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. 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 pyramidal signs 90% Abnormality of extrapyramidal motor function 90% Behavioral abnormality 90% Developmental regression 90% Incoordination 90% Involuntary movements 90% Seizures 90% Retinopathy 7.5% Visual impairment 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.
Question:  What are the symptoms of Kaplan Plauchu Fitch syndrome ?
Answer: What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch 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) Abnormal form of the vertebral bodies 90% Abnormality of periauricular region 90% Abnormality of the fingernails 90% Abnormality of the metacarpal bones 90% Abnormality of the toenails 90% Anteverted nares 90% Cleft palate 90% Low-set, posteriorly rotated ears 90% Prominent nasal bridge 90% Proptosis 90% Ptosis 90% Short distal phalanx of finger 90% Short philtrum 90% Short stature 90% Tapered finger 90% Telecanthus 90% Triphalangeal thumb 90% Abnormality of the hip bone 50% Advanced eruption of teeth 50% Choanal atresia 50% Conductive hearing impairment 50% Craniosynostosis 50% Genu valgum 50% Hypertelorism 50% Lacrimation abnormality 50% Microcephaly 50% Myopia 50% Pectus excavatum 50% Sensorineural hearing impairment 50% Sloping forehead 50% Spina bifida occulta 50% Ulnar deviation of finger 50% Abnormal auditory evoked potentials - Abnormality of the vertebral column - Autosomal recessive inheritance - Hypotelorism - Oxycephaly - Preauricular pit - Short 1st metacarpal - Short first metatarsal - 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.
Question:  What are the symptoms of Chudley Rozdilsky syndrome ?
Answer: What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky 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) Abnormal hair quantity 90% Abnormality of the palate 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Disproportionate tall stature 90% Facial palsy 90% Hyperlordosis 90% Hypertelorism 90% Hypoplasia of penis 90% Myopia 90% Ophthalmoparesis 90% Ptosis 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Limitation of joint mobility 50% Microcephaly 50% Prominent nasal bridge 50% Abnormality of the ribs 7.5% Facial asymmetry 7.5% Pectus carinatum 7.5% Tracheoesophageal fistula 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Hypogonadotrophic hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Myopathy - 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.
Question:  What is (are) Chromosome 15q deletion ?
Answer: Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 15q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Question:  What is (are) Congenital laryngeal palsy ?
Answer: Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It represents 15%-20% of all cases of congenital anomalies of the larynx. It may be bilateral or unilateral. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the immaturity of the nerve or muscle (neuromuscular) or due to central nervous system damage (including the Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, hypoxia (lack of oxygen in the blood), or bleeding). Birth trauma that causes excessive tension in the neck can cause transient bilateral vocal cord paralysis that can last 6-9 months. Unilateral paralysis is usually idiopathic but can be secondary to problems with the vagus nerve or recurrent laryngeal nerve. Bilateral vocal fold paralysis signals and symptoms may include making a noise when breathing (inspiratory stridor) that worsens upon exercise, progressive obstruction of the respiratory airway, aspiration, recurrent chest infections, cyanosis, nose flaring and signs of cranial nerve deficits during the head and neck exam. Flexible endoscopy usually elucidates the diagnosis by demonstrating vocal fold paralysis and no other abnormality. Treatment may include medication, operations and speech therapy.
Question:  What are the symptoms of Congenital laryngeal palsy ?
Answer: What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformations of the Larynx
Question:  What causes Congenital laryngeal palsy ?
Answer: What is the cause of congenital laryngeal paralysis? The cause is often unknown (idiopathic). Congenital bilateral vocal cord paralysis may occur as a result of the immaturity of the nerve or muscle (neuromuscular) or as a result of central nervous system problems, such as Arnold-Chiari syndrome, cerebral palsy, hydrocephalus, myelomeningocele, spine bifida, hypoxia (lack of oxygen in the blood), or bleeding. In other cases the vocal cords' paralysis is acquired. For example, a birth trauma may cause tension in the neck and lead to bilateral vocal cord paralyses that can last 6-9 months. Other causes may include:  Surgical Trauma  Malignancies  Delayed endotracheal intubation  Neurological diseases  Strokes  Choking  Diseases that result in inflammation of the vocal cords or the laryngeal cartilage (Wegener's granulomatosis, sarcoidosis or polychondritis, gout, syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords)  Diabetes mellitus, which may lead to a neuropathy resulting in vocal cord paralysis  Gastroesophageal reflux (GER). The unilateral paralysis is usually idiopathic but may also be secondary to mediastinal lesions, such as tumors or vascular malformations or iatrogenic (caused by damage to the left recurrent laryngeal nerve during surgery in this area, such as heart surgery). It may also result from problems of the mechanical structures of the larynx as the cricoarytenoid joint. The following online resources provide more information on the cause of congenital laryngeal paralysis: American Academy of Otolaringology Medscape Reference - Congenital Malformations of the Larynx
Question:  How to diagnose Congenital laryngeal palsy ?
Answer: How is congenital laryngeal paralysis diagnosed? The following online resources provide information on the diagnosis of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis American Speech-Language-Hearing Association (ASHA) - Vocal Cord Paralysis Medscape Reference - Congenital Malformations of the Larynx
Question:  What are the treatments for Congenital laryngeal palsy ?
Answer: What treatment is available for congenital laryngeal paralysis? The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a speech-language pathologist may be needed for voice therapy, which may involve exercises to strengthen the vocal folds or improve breath control while speaking. Patients may also learn how to use the voice differently, for example, by speaking more slowly or opening the mouth wider when speaking. Treatment may include: Corticosteroids: When there is an associated disease such as Wegener's granulomatosis, sarcoidosis or polychondritis. Medical treatment of the disease that lead to an inflammation of the cricoarytenoid joint ( gout) or the laryngeal mucosa such as syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords) to improve breathing. Diabetes treatment: Can help to improve a neuropathy of the vocal cords caused by the diabetes mellitus. Treatment of reflux: When the condition is caused by the gastroesophageal reflux. Treatment of the eventual scarring of the arytenoid cartilages. Several surgical procedures depending on whether one or both of the vocal cords are paralyzed. The most common procedures change the position of the vocal fold. These may involve inserting a structural implant or stitches to reposition the laryngeal cartilage and bring the vocal folds closer together. These procedures usually result in a stronger voice. Surgery is followed by additional voice therapy to help fine-tune the voice:  Functional procedures as microflap, laryngectomy (similar to tracheostomy) with subsequent cricoidotomia (removal of the cricoid cartilage) and cartilage graft and stent (or stent placement only) or reconstruction of the local mucosa with scar removal.  Tracheotomy: May be required to help breathing. In a tracheotomy, an incision is made in the front of the neck and a breathing tube is inserted through an opening, called a stoma, into the trachea. Rather than occurring through the nose and mouth, breathing now happens through the tube. Following surgery, therapy with a speech-language pathologist helps you learn how to use the voice and how to properly care for the breathing tube  Permanent treatments with removal of the vocal cords (unilateral or bilateral) or the arytenoid cartilage (endoscopic or external, partial or complete) or changing the position of the vocal cords. Other treatment may include:  Reinnervation techniques (experimental)  Electrical stimulation (experimental). Most cases of unilateral vocal cord paralysis do not need any treatment. Adopting a vertical position is sometimes enough to relieve breathing problems but in some patients it may require an intubation.
Question:  What is (are) Renal oncocytoma ?
Answer: Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass. Although these tumors can occur in people of all ages, they most commonly develop in men who are over age 50. The exact underlying cause of most isolated (single tumor affecting one kidney) renal oncocytomas is unknown; however, multiple and bilateral (affecting both kidneys) renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma. Most affected people are, therefore, treated with surgery which allows for confirmation of the diagnosis.