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

Answer: What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature Delayed closure of the fontanelles Short fingers Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia Rupture of the bladder or diaphragm Mild to severe joint hypermobility The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, dermatosparaxis type. 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 coagulation 90% Abnormality of the hip bone 90% Atypical scarring of skin 90% Hyperextensible skin 90% Joint dislocation 90% Limitation of joint mobility 90% Muscular hypotonia 90% Neurological speech impairment 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Umbilical hernia 90% Depressed nasal bridge 50% Epicanthus 50% Hypertelorism 50% Scoliosis 50% Abnormality of primary molar morphology - Autosomal recessive inheritance - Blepharochalasis - Blue sclerae - Bruising susceptibility - Delayed closure of the anterior fontanelle - Fragile skin - Frontal open bite - Gingival bleeding - Gingival hyperkeratosis - Gingival overgrowth - Hirsutism - Hypodontia - Inguinal hernia - Joint laxity - Micromelia - Motor delay - Myopia - Osteopenia - Premature birth - Premature rupture of membranes - Recurrent mandibular subluxations - Redundant skin - Short phalanx of finger - Short toe - Soft, doughy skin - Spontaneous neonatal pneumothorax - Thick vermilion border - Wide anterior fontanel - 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 Freeman Sheldon syndrome ?

Answer: What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon 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 teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - 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 Werner's syndrome ?

Answer: What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's 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% Abnormal hair whorl 90% Abnormality of the thorax 90% Cataract 90% Convex nasal ridge 90% Lipoatrophy 90% Pili torti 90% Prematurely aged appearance 90% Short stature 90% White forelock 90% Abnormality of retinal pigmentation 50% Abnormality of the pulmonary artery 50% Abnormality of the testis 50% Abnormality of the voice 50% Aplasia/Hypoplasia of the skin 50% Chondrocalcinosis 50% Congestive heart failure 50% Coronary artery disease 50% Decreased fertility 50% Diabetes mellitus 50% Hyperkeratosis 50% Increased bone mineral density 50% Lack of skin elasticity 50% Narrow face 50% Reduced bone mineral density 50% Rocker bottom foot 50% Short palm 50% Skeletal muscle atrophy 50% Skin ulcer 50% Telangiectasia of the skin 50% Abnormality of the cerebral vasculature 7.5% Hypertension 7.5% Laryngomalacia 7.5% Limitation of joint mobility 7.5% Meningioma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neoplasm of the oral cavity 7.5% Neoplasm of the skin 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the thyroid gland 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Secondary amenorrhea 7.5% Abnormality of the hair - Autosomal recessive inheritance - Hypogonadism - Osteoporosis - Osteosarcoma - Premature arteriosclerosis - Progeroid facial appearance - Retinal degeneration - Subcutaneous calcification - 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 Weill-Marchesani syndrome ?

Answer: What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childhood and include microspherophakia (small spherical lens), severe nearsightedness (myopia), ectopia lentis (abnormal position of the lens), and glaucoma, all of which can affect vision. Occasionally people with Weill-Marchesani syndrome have heart abnormalities such as pulmonary valve stenosis or ductus arteriosus. Most individuals with Weill-Marchesani syndrome have normal intelligence.   The Human Phenotype Ontology provides the following list of signs and symptoms for Weill-Marchesani 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) Aplasia/Hypoplasia of the lens 90% Ectopia lentis 90% Glaucoma 90% Myopia 90% Short stature 90% Short toe 90% Limitation of joint mobility 50% Thickened skin 50% Intellectual disability, mild 11% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Abnormality of dental morphology - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Blindness - Brachycephaly - Brachydactyly syndrome - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanges of the hand - Broad ribs - Broad skull - Cataract - Depressed nasal bridge - Hypoplasia of the maxilla - Joint stiffness - Lumbar hyperlordosis - Misalignment of teeth - Mitral regurgitation - Narrow palate - Patent ductus arteriosus - Proportionate short stature - Pulmonic stenosis - Scoliosis - Severe Myopia - Shallow anterior chamber - Shallow orbits - Spinal canal stenosis - Thin bony cortex - Ventricular septal defect - 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 Urine Blockage in Newborns ?

Answer: Many types of defects in the urinary tract can cause urine blockage:
                
- Vesicoureteral reflux (VUR). Most children with VUR are born with a ureter that did not grow long enough during development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine backs uprefluxesfrom the bladder to the ureter and eventually to the kidney. Severe reflux may prevent a kidney from developing normally and may increase the risk for damage from infections after birth. VUR usually affects only one ureter and kidney, though it can affect both ureters and kidneys.  - Ureteropelvic junction (UPJ) obstruction. If urine is blocked where the ureter joins the kidney, only the kidney swells. The ureter remains a normal size. UPJ obstruction usually occurs in only one kidney.
                
- Bladder outlet obstruction (BOO). BOO describes any blockage in the urethra or at the opening of the bladder.Posterior urethral valves (PUV), the most common form of BOO seen in newborns and during prenatal ultrasound exams, is a birth defect in boys in which an abnormal fold of tissue in the urethra keeps urine from flowing freely out of the bladder. This defect may cause swelling in the entire urinary tract, including the urethra, bladder, ureters, and kidneys.  - Ureterocele. If the end of the ureter does not develop normally, it can bulge, creating a ureterocele. The ureterocele may obstruct part of the ureter or the bladder.
                
Some babies are born with genetic conditions that affect several different systems in the body, including the urinary tract:
                
- Prune belly syndrome (PBS). PBS is a group of birth defects involving poor development of the abdominal muscles, enlargement of the ureters and bladder, and both testicles remaining inside the body instead of descending into the scrotum. The skin over the abdomen is wrinkled, giving the appearance of a prune. PBS usually occurs in boys, and most children with PBS have hydronephrosisswelling in the kidneyand VUR.  - Esophageal atresia (EA). EA is a birth defect in which the esophagusthe muscular tube that carries food and liquids from the mouth to the stomachlacks the opening for food to pass into the stomach. Babies born with EA may also have problems with their spinal columns, digestive systems, hearts, and urinary tracts.  - Congenital heart defects. Heart defects range from mild to life threatening. Children born with heart defects also have a higher rate of problems in the urinary tract than children in the general population, suggesting that some types of heart and urinary defects may have a common genetic cause.
                
Urine blockage can also be caused by spina bifida and other birth defects that affect the spinal cord. These defects may interrupt nerve signals between the bladder, spinal cord, and brain, which are needed for urination, and lead to urinary retentionthe inability to empty the bladder completelyin newborns. Urine that remains in the bladder can reflux into the ureters and kidneys, causing swelling.
Question: What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ?

Answer: What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. 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 sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - 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: How to prevent Osteoporosis ?

Answer: Preventing falls is a special concern for men and women with osteoporosis. Falls can increase the likelihood of fracturing a bone in the hip, wrist, spine, or other part of the skeleton. In addition to the environmental factors listed below, falls can also be caused by impaired vision or balance, chronic diseases that affect mental or physical functioning, and certain medications, such as sedatives and antidepressants. It is also important that individuals with osteoporosis be aware of any physical changes that affect their balance or gait, and that they discuss these changes with their health care provider. Here are some tips to help eliminate the environmental factors that lead to falls.  Outdoors: - Use a cane or walker for added stability.   - Wear rubber-soled shoes for traction.  - Walk on grass when sidewalks are slippery.  - In winter, carry salt or kitty litter to sprinkle on slippery sidewalks.  - Be careful on highly polished floors that become slick and dangerous when wet.  - Use plastic or carpet runners when possible. Use a cane or walker for added stability. Wear rubber-soled shoes for traction. Walk on grass when sidewalks are slippery. In winter, carry salt or kitty litter to sprinkle on slippery sidewalks. Be careful on highly polished floors that become slick and dangerous when wet. Use plastic or carpet runners when possible.  Indoors: -  Keep rooms free of clutter, especially on floors.   - Keep floor surfaces smooth but not slippery.  - Wear supportive, low-heeled shoes even at home.  - Avoid walking in socks, stockings, or slippers.  - Be sure carpets and area rugs have skid-proof backing or are tacked to the floor.  - Be sure stairwells are well lit and that stairs have handrails on both sides.  - Install grab bars on bathroom walls near tub, shower, and toilet.  - Use a rubber bath mat in shower or tub.  - Keep a flashlight with fresh batteries beside your bed.  - If using a step stool for hard-to-reach areas, use a sturdy one with a handrail and wide steps.  - Add ceiling fixtures to rooms lit by lamps.  - Consider purchasing a cordless phone so that you dont have to rush to answer the phone when it rings, or so that you can call for help if you do fall. Keep rooms free of clutter, especially on floors. Keep floor surfaces smooth but not slippery. Wear supportive, low-heeled shoes even at home. Avoid walking in socks, stockings, or slippers. Be sure carpets and area rugs have skid-proof backing or are tacked to the floor. Be sure stairwells are well lit and that stairs have handrails on both sides. Install grab bars on bathroom walls near tub, shower, and toilet. Use a rubber bath mat in shower or tub. Keep a flashlight with fresh batteries beside your bed. If using a step stool for hard-to-reach areas, use a sturdy one with a handrail and wide steps. Add ceiling fixtures to rooms lit by lamps. Consider purchasing a cordless phone so that you dont have to rush to answer the phone when it rings, or so that you can call for help if you do fall. Learn more about devices that can help prevent falls in older adults.
Question: What are the symptoms of 1q21.1 microdeletion syndrome ?

Answer: What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion 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 nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - 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.