umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Ehlers-Danlos syndrome ?

Answer: What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized.
Question: What are the symptoms of Lateral meningocele syndrome ?

Answer: What are the signs and symptoms of Lateral meningocele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lateral meningocele 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) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - 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 causes National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?

Answer: We have not found any particular preparation of pituitary hGH that is especially likely to carry CJD. We believe that CJD did not come from a single infected pituitary gland or preparation. Prior to 1977, in an effort to extract as much hormone as possible from the pituitary glands, the glands were often processed repeatedly. Hormone extracted from the same pituitaries was often included in many hormone preparations. Also, patients who got CJD were treated on average for 8.4 years and received many different hormone preparations. This makes it very difficult to identify any preparation associated with transmitting CJD.
                
Doctors wanted to see if a specific preparation of pituitary hGH could transmit CJD. To try to find the pituitary hGH that could have caused CJD, HHS researchers did two things:
                
1. They set up a test in animals, injecting samples of all available preparations of pituitary hGH directly into the brains of monkeys. CJD develops more rapidly if injected into the brain than under the skin, as hGH was used in people. The animals were watched for 10 years. The brains of all animals were examined for signs of CJD. If an animal got sick with CJD, it would help researchers to understand which vials of pituitary hGH were contaminated with the agent that causes CJD.
                
2. They studied people treated with pituitary hGH to see who got CJD and which hormone preparation they might have received based on which preparations were sent to their doctor.
                
Results:
                
- The animal tests did not help find the pituitary hGH that might have caused CJD. One animal developed the disease 5 years after injection of pituitary hGH. Two other animals that received injections from different vials of the same pituitary hGH preparation did not develop CJD.  - None of the people who developed CJD are known to have received the hormone preparation that made the animal sick. At most, two patients (whose records are incomplete) may have received this pituitary hGH preparation. Because of this, we do not believe that the patients who received the hormone preparation that transmitted CJD to the animal have a greater risk of developing CJD than others treated with pituitary hGH. Because each preparation of pituitary hGH was used to fill multiple vials, it is not known if CJD contamination was spread evenly among all vials of pituitary hGH that came from a particular preparation. It's possible that one vial got more contamination and another got little or none from the same preparation of pituitary hGH. It is believed that multiple preparations of pituitary hGH probably had very low levels of the CJD infectious agent. With such low levels of contamination, some vials of a preparation might carry CJD while other vials would not. Further, most of the people who got CJD received pituitary hGH for long periods of time and received many different preparations.
Question: What are the symptoms of X-linked agammaglobulinemia ?

Answer: What are the signs and symptoms of X-linked agammaglobulinemia? Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked agammaglobulinemia. 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 temperature regulation 90% Abnormality of the tonsils 90% Decreased antibody level in blood 90% Diarrhea 90% Inflammatory abnormality of the eye 90% Otitis media 90% Recurrent cutaneous abscess formation 90% Recurrent respiratory infections 90% Short stature 90% Sinusitis 90% Skin rash 90% Skin ulcer 90% Abnormality of neutrophils 50% Arthritis 50% Cellulitis 50% Meningitis 50% Sepsis 50% Abnormality of the liver 7.5% Alopecia 7.5% Anemia 7.5% Autoimmunity 7.5% Hypopigmented skin patches 7.5% Malabsorption 7.5% Osteomyelitis 7.5% Thrombocytopenia 7.5% Weight loss 7.5% Agammaglobulinemia - Conjunctivitis - Cor pulmonale - Delayed speech and language development - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Hearing impairment - Lymph node hypoplasia - Neoplasm - Pneumonia - Prostatitis - Pyoderma - Recurrent urinary tract infections - Septic arthritis - X-linked recessive 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.
Question: What is (are) Ehlers-Danlos syndrome ?

Answer: Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.  Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. The types are distinguished by their signs and symptoms, their underlying genetic causes, and their patterns of inheritance. Since 1997, several additional forms of the condition have been described. These additional forms appear to be rare, affecting a small number of families, and most have not been well characterized.  Although all types of Ehlers-Danlos syndrome affect the joints and skin, additional features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. Hypermobility and dislocations of both hips at birth are characteristic features in infants with the arthrochalasia type of Ehlers-Danlos syndrome.  Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older.  Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.
Question: What are the symptoms of Oto-palato-digital syndrome type 1 ?

Answer: What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. 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 nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - 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.
Question: What is (are) familial thoracic aortic aneurysm and dissection ?

Answer: Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.  In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).  The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.  Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.  Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.
Question: What are the symptoms of Simosa cranio facial syndrome ?

Answer: What are the signs and symptoms of Simosa cranio facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio facial 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 antihelix 90% Abnormality of the antitragus 90% Abnormality of the palate 90% Abnormality of the tragus 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Blepharophimosis 90% Broad forehead 90% Chin dimple 90% Downturned corners of mouth 90% High forehead 90% Highly arched eyebrow 90% Hypoplasia of the zygomatic bone 90% Long face 90% Long philtrum 90% Macrotia 90% Malar flattening 90% Narrow mouth 90% Telecanthus 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Cryptorchidism 50% Hernia of the abdominal wall 50% Low-set, posteriorly rotated ears 50% Scoliosis 50% Scrotal hypoplasia 50% Camptodactyly of finger 7.5% Abnormality of the pinna 2/2 Abnormality of the skin 2/2 Blepharophimosis 2/2 Broad forehead 2/2 Depressed nasal tip 2/2 High, narrow palate 2/2 Highly arched eyebrow 2/2 Inguinal hernia 2/2 Long face 2/2 Long nose 2/2 Long philtrum 2/2 Low-set ears 2/2 Malar flattening 2/2 Narrow mouth 2/2 Nasal speech 2/2 Posteriorly rotated ears 2/2 Sparse eyebrow 2/2 Telecanthus 2/2 Underdeveloped nasal alae 2/2 Wide nasal bridge 2/2 Autosomal 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.