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Thursday, August 11, 2011

Did you know that Mild to moderate mental retardation are symptoms of Williams Syndrome?

Did you know that Williams syndrome is a rare genetic disorder caused by missing genes?
Did you know that parents may not have any family history of Williams syndrome but has a 50% chance of passing the disorder on to each of his or her children?
Did you know that Williams syndrome occurs in about 1 in 8,000 births?
Did you know that one of the 25 missing genes in Williams Syndrome is the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch?

Did you know that Mild to moderate mental retardation are symptoms of Williams Syndrome?

Did you know that a Sunken chest (pectus excavatum) is also a symptoms of 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, fearing loud sounds or physical contact, and being interested in music
  • Short compared to the rest of the person's family
  • Sunken chest (pectus excavatum)
  • Unusual appearance of the face
    • Flattened nasal bridge with small upturned nose
    • Long ridges in the skin that run from the nose to the upper lip (philtrum)
    • Prominent lips with an open mouth
    • Skin that covers the inner corner of the eye (epicanthal folds)
    • Partially missing teeth, defective tooth enamel, or small, widely spaced teeth

Signs include:

Tests for Williams syndrome:
  • Blood pressure check
  • Blood test for missing chromosome (FISH test)
  • Echocardiography combined with Doppler ultrasound
  • Kidney ultrasound

Did you know that there is no cure for Williams syndrome?

Did you know that if you have Williams Syndrome you should avoid taking extra calcium and vitamin D?


muDid you know that if you have joint stiffness that physical therapy is helpfull?

Did you know that they have Support Groups for Williams Syndrome Foundation -- www.wsf.org,Williams Syndrome Association -- www.williams-syndrome.org?

Did you know that about 75% of those with Williams syndrome have some mental retardation?

Did you know that most patients will not live as long as normal, due to complications?
Did you know that most patients with Williams Syndrome require full-time caregivers and often live in supervised group home?

Did you know that Complications from Williams Syndrome are Heart failure due to narrowed blood vessels?

Did you know that calcium deposits in the kidney and other kidney problems are often complications of Williams Syndrome?




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