Doctor insights on:
Progeria Williams Syndrome
Williams syndrome: Delayed speech that may later turn into strong speaking ability and strong learning by hearing developmental delay easily distracted, attention deficit disorder (add) feeding problems including colic, reflux, and vomiting inward bend of the small finger (clinodactyly) learning disorders mild to moderate mental retardation personality traits including being very friendly, trusting strangers, fearin. ...Read more
A rare hereditary condition affecting the blood vessels, skin and musculoskeletal system that creates the impression of accelerated aging. Some aging processes are truly accelerated such as atherosclerosis of the coronary and carotid arteries, resulting early death. Most of the other illnesses of aging such as cancer, cataracts, and dementia do not occur but deposition of a substance associated with aging, liposuction, in vital organs leads to impairment of the liver, heart, adrenal glands, brain and skeletal system. Another protein, progeria, leads to defective DNA expression and repair. This protein also enhances the development of atherosclerosis. Children with progeria have brittle bones, pathological fractures, feeding problems, dental abnormalities, hearing loss, growth failure, ...Read more
"Getting": It's an inherited condition - you've got it or you don't. ...Read more
Williams syndrome: Check out this site: http://williams-syndrome.Org/ws.Get a more detailed answer ›
Genetic disorder: Rare disorder multiple systems involved apearance of face and body demonstrates poor developement. Loss of hearing , diabetes , heart failure, aortic valve abnormalities , high blood pressure, just to name a few issues. Life expectancy depends on early diagnosis and intense treatment and follow up. It can be normal except if there heart defect that is serious. ...Read more
Williams/Angelman: Williams show distinct facial features, Cardiovascular abnormalities, Hypercalcemia & Hyperactivity. Angelman show severe intellectual impairments, Seizures, Ataxia, Speech impairment. Both are rare genetic diseases involving Chromosomal abnormalities (Chromosome 15 in Angelman, 7 in Williams). ...Read more
Is it strange for people with Williams syndrome to have a fascination with children's cartoons? As a grown adult, or teenager.
Probably no: Williams syndrome is a disorder where the personality is called cock-tail personality. Very outgoing personality without inhibitions. Although they are outgoing they do have developmental delays and can have low normal IQ. I do not believe it is strange to have a fascination with children's cartoons. Would be based on this person's IQ. ...Read more
I have Williams Syndrome. I have just started to have safe sex with my boyfriend of 6 years. Is there anything I need to be careful of. ?
Not much: There is nothing in your medical condition of William Syndrome that requires any special care re sexual activity. Just make sure you get you medical evaluations regularly from your regular doctors and needed referrals to specialists, with a particular focus on BP and cardiac complications that unfortunately are part of the disease spectrum including which may exist.It is good to be safe! ...Read moreSee 2 more doctor answers
FISH or micro array: 2 tests: fish (fluorescent in situ hybridization-special chromosome analysis using specially prepared elastin probes. Normal folks have 2 copies of elastin gene on chromosome 7. Micro array analysis is the other. ...Read more
genetic eval needed: Williams syndrome is a rare genetic condition that can affect many organ systems. It can affect the brain, heart an skeletal system. There are guidelines for what medical evaluations should be done on a annual basis. Talk to a geneticist to help coordinate care. ...Read moreSee 1 more doctor answer
William's Syndrome: Children and adults with williams’s syndrome have very impressive social and verbal abilities. Their verbal abilities surpass their overall IQ scores. The language used by individuals with williams’s syndrome differs notably from other children with a similar IQ who do not have williams syndrome. They also tend to use speech that is rich in emotional descriptors. ...Read moreSee 1 more doctor answer
Growth and cardiac: Williams syndrome patients have often growth deficiency. Language ability is greater than cognitive ability. They are friendly, have a hoarse voice, anxious, hypersensitive to sounds. Often, they have blue eyes, with a stellate pattern in the iris, prominent lips, hypoplastic nails, poor dentition. Supravalvular aortic stenosis and peripheral pulmonary stenosis are common. Renal anomalies as well. ...Read more
Williams syndrome: Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several adjacent genes on 7q. ...Read moreSee 1 more doctor answer
William's Syndrome: Paraphrasing the national website (most young children with williams syndrome are described as having a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. They can also have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age (see http://www.Williams-syndrome.Org/). ...Read more
Facial change murmur: Most have prominent lips, star like iris changes, eyebrow flare & skin fold over the inner corner of the eye. Growth is a bit slower than average as is head size. The aortic valve is often tight , producing a murmur. The great toe is often separated a bit from the rest of the toes. ...Read more
Williams Syndrome: The most common symptoms of williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. Individuals with williams syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. ...Read more
Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more
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