falan42/medcuad_data huggingface dataset:
Topic: CHILD syndrome
Question: What are the symptoms of CHILD syndrome ?
Answer: What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD 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) Congenital ichthyosiform erythroderma 100% Stillbirth 99% Abnormality of bone mineral density 90% Abnormality of the ribs 90% Abnormality of the thyroid gland 90% Amniotic constriction ring 90% Aplasia of the pectoralis major muscle 90% Aplasia/hypoplasia of the extremities 90% Asymmetric growth 90% Atria septal defect 90% Cognitive impairment 90% Epiphyseal stippling 90% Flexion contracture 90% Hypoplastic left heart 90% Ichthyosis 90% Skin rash 90% Sprengel anomaly 90% Thin skin 90% Upper limb phocomelia 90% Abnormality of the nail 75% Hyperkeratosis 75% Parakeratosis 75% Cerebral cortical atrophy 50% Abnormality of cardiovascular system morphology 7.5% Abnormality of epiphysis morphology 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the fingernails 7.5% Abnormality of the heart valves 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the lungs 7.5% Arteriovenous malformation 7.5% Cleft palate 7.5% Congenital hip dislocation 7.5% Dry skin 7.5% Elevated 8(9)-cholestenol 7.5% Elevated 8-dehydrocholesterol 7.5% Hearing impairment 7.5% Hypoplastic pelvis 7.5% Hypoplastic scapulae 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Myelomeningocele 7.5% Polycystic ovaries 7.5% Pulmonary hypoplasia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short clavicles 7.5% Short ribs 7.5% Short stature 7.5% Ventricular septal defect 7.5% Vertebral hypoplasia 7.5% Adrenal hypoplasia 5% Aplasia/Hypoplasia involving the central nervous system 5% Thyroid hypoplasia 5% Abnormality of the cardiac septa - Cleft upper lip - Heterogeneous - Hydronephrosis - Intellectual disability, mild - Mild intrauterine growth retardation - Single ventricle - Umbilical hernia - 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.
(Source: GARD)
Topic: Amniotic band syndrome
Question: What is (are) Amniotic band syndrome ?
Answer: Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputation. When this happens the baby is said to have amniotic band syndrome. Amniotic bands are thought to happen sporadically or in association with trauma to the abdomen. It can be a complication after an amniocentesis and/or it can indicate early rupture of the amniotic sac.
(Source: GARD)
Topic: Amniotic band syndrome
Question: What are the symptoms of Amniotic band syndrome ?
Answer: What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and require immediate surgical care. When the bands affect the limbs, the lower part of the limbs are most often involved, especially the middle, long, and index fingers of the hand. When the feet are involved, the bands most commonly affect the big toe. Pressure from the bands may result in additional abnormalities, such as underdevelopment of a limb, bone abnormalities, amputations, leg-length discrepancy, and club feet. Constriction bands across the head and face may lead to facial clefts. Severe clefts affecting vital organs are often life-threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Amniotic band 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) Amniotic constriction ring 90% Finger syndactyly 90% Split hand 90% Talipes 90% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the radius 50% Lymphedema 50% Oligohydramnios 50% Scoliosis 50% Abnormal lung lobation - Abnormality of the rib cage - Bladder exstrophy - Cleft eyelid - Cleft palate - Cleft upper lip - Ectopia cordis - Encephalocele - Facial cleft - Gastroschisis - Hand polydactyly - Omphalocele - Sporadic - Syndactyly - Talipes equinovarus - 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.
(Source: GARD)
Topic: Amniotic band syndrome
Question: What causes Amniotic band syndrome ?
Answer: What causes amniotic bands? Amniotic bands are caused by damage to a part of the placenta called the amnion. Damage to the amnion may produce fiber-like bands that can trap parts of the developing baby.
(Source: GARD)
Topic: Amniotic band syndrome
Question: How to diagnose Amniotic band syndrome ?
Answer: How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more often diagnosed by the results of the fusion, such as missing or deformed limbs.
(Source: GARD)
Topic: Amniotic band syndrome
Question: What are the treatments for Amniotic band syndrome ?
Answer: How might amniotic band syndrome be treated? Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. People with amniotic band syndrome who have amputations may benefit from the use of prosthetics.
(Source: GARD)
Topic: Sudden infant death syndrome
Question: What is (are) Sudden infant death syndrome ?
Answer: Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendations for risk reduction. Please click on the link to access this resource.
(Source: GARD)
Topic: Sudden infant death syndrome
Question: What are the symptoms of Sudden infant death syndrome ?
Answer: What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death 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) Apneic episodes in infancy - Sudden death - 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.
(Source: GARD)
Topic: Klebsiella infection
Question: What is (are) Klebsiella infection ?
Answer: Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria, including pneumonia; bloodstream infections; wound or surgical site infections; and meningitis. Healthy people usually do not get Klebsiella infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections. In healthcare settings, people who require long courses of antibiotics and/or devices such as ventilators (breathing machines) or intravenous (vein) catheters are at the most risk for Klebsiella infections. These infections are often treated with antibiotics, although some Klebsiella bacteria may be resistant to certain types of antibiotics.
(Source: GARD)
Topic: Klebsiella infection
Question: What are the symptoms of Klebsiella infection ?
Answer: What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in severe cases. Early signs and symptoms of this condition include: High fevers Chills Flu-like symptoms Cough with yellow and/or bloody mucus Shortness of breath Other common Klebsiella infections include bloodstream infections; wound or surgical site infections; and meningitis.
(Source: GARD)
Topic: Klebsiella infection
Question: What causes Klebsiella infection ?
Answer: What causes Klebsiella infections? Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria. These bacteria are usually found in human intestines where they do not cause infections. To get a Klebsiella infection, a person must be exposed to the bacteria. For example, Klebsiella must enter the respiratory (breathing) tract to cause pneumonia, or the blood to cause a bloodstream infection. Most healthy people do not get Klebsiella infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections. Klebsiella bacteria are usually spread through person-to-person contact. In healthcare settings, people who require long courses of antibiotics and and people whose care requires the use of ventilators (breathing machines) or intravenous (vein) catheters are more at risk for Klebsiella infections. How are Klebsiella bacteria spread? To get a Klebsiella infection, a person must be exposed to the bacteria. For example, Klebsiella must enter the respiratory (breathing) tract to cause pneumonia or the blood to cause a bloodstream infection. In healthcare settings, Klebsiella bacteria can be spread through person-to-person contact or, less commonly, by contamination of the environment. It is not spread through the air. Patients in healthcare settings also may be exposed to Klebsiella when they are on ventilators (breathing machines), or have intravenous (vein) catheters or wounds (caused by injury or surgery). To prevent spreading Klebsiella infections between patients, healthcare personnel must follow specific infection control precautions. These precautions may include frequent hand washing and wearing gowns and gloves when entering the rooms of patients with Klebsiellarelated illnesses. Healthcare facilities should also follow strict cleaning procedures to prevent the spread of Klebsiella. If family members are healthy, they are at very low risk of acquiring a Klebsiella infection. It is still necessary to follow all precautions, particularly hand hygiene. Klebsiella bacteria are spread mostly by person-to-person contact and hand washing is the best way to prevent the spread of germs.
(Source: GARD)
Topic: Klebsiella infection
Question: How to diagnose Klebsiella infection ?
Answer: How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebsiella infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of Klebsiella bacteria.
(Source: GARD)
Topic: Klebsiella infection
Question: What are the treatments for Klebsiella infection ?
Answer: How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibility testing) to determine which antibiotics may be used to treat the Klebsiella infection. If the healthcare provider prescribes an antibiotic, it is important to take the medication exactly as instructed and to continue taking the prescribed course, even if symptoms are gone. If treatment stops too soon, some bacteria may survive and the person may become re-infected.
(Source: GARD)
Topic: Glaucoma 3 primary infantile B
Question: What are the symptoms of Glaucoma 3 primary infantile B ?
Answer: What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. 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 recessive inheritance - Primary congenital glaucoma - 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.
(Source: GARD)
Topic: Ulna and fibula, hypoplasia of
Question: What are the symptoms of Ulna and fibula, hypoplasia of ?
Answer: What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. 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 fibula 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Ulnar deviation of finger 90% Synostosis of carpal bones 50% Myopia 7.5% Strabismus 7.5% Autosomal dominant inheritance - Fibular hypoplasia - Hypoplasia of the ulna - Neonatal short-limb short 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.
(Source: GARD)
Topic: Leri Weill dyschondrosteosis
Question: What is (are) Leri Weill dyschondrosteosis ?
Answer: Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.
(Source: GARD)
Topic: Leri Weill dyschondrosteosis
Question: What are the symptoms of Leri Weill dyschondrosteosis ?
Answer: What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. 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 femur 90% Abnormality of the hip bone 90% Abnormality of the humeroulnar joint 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Arthralgia 90% Bone pain 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Depressed nasal bridge 90% Exostoses 90% Genu varum 90% Limitation of joint mobility 90% Madelung deformity 90% Micromelia 90% Patellar aplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Elbow dislocation 50% Genu valgum 50% Osteoarthritis 50% Scoliosis 50% Nephropathy 7.5% Abnormality of the carpal bones - Abnormality of the metatarsal bones - Autosomal dominant inheritance - Coxa valga - Disproportionate short-limb short stature - Dorsal subluxation of ulna - Fibular hypoplasia - High palate - Hypoplasia of the radius - Hypoplasia of the ulna - Increased carrying angle - Limited elbow movement - Limited wrist movement - Mesomelia - Multiple exostoses - Radial bowing - Short 4th metacarpal - Short tibia - Short toe - Skeletal muscle hypertrophy - Tibial bowing - 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.
(Source: GARD)