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Williams Syndrome-The Truth and Facts
Cause of this disorder:
*deletion of genetic material from a specific region of chromosome 7
*deleted region includes more than 25 genes
Body systems affected:
*musculoskeletal
*cardiovascular
*neurological
Number of people affected:
*1 in 7,500 births
Group of people affected:
*no specific races affected
Symptoms
*Characteristic facial appearance
*Heart and blood vessel problems
*Hypercalcemia (elevated blood calcium levels)
*Low birth-weight / low weight gain
*Feeding problems
*Irritability (colic during infancy)
*Dental abnormalities
*Kidney abnormalities
*Hernias
*Hyperacusis (sensitive hearing)
*Musculoskeletal problems
*Overly friendly (excessively social) personality
*Developmental delays
*Learning delays
Treatment:
*no treatment available
Prognosis:
*varies
*degree of mental retardation
*some adults are able to function independently:
*complete academic or vocational school
*live in supervised homes or on their own; most live with a caregiver
*parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early
*early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of Williams Syndrome in mind can also help individuals maximize their potential
*Medical complications associated with the disorder may shorten the lifespans of some individuals with Williams Syndrome
Latest Research:
*The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder. The NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.
Support groups:
*Williams Syndrome Association
P.O. Box 297
Clawson, MI 48017-0297
info@williams-syndrome.org
http://www.williams-syndrome.org
Tel: 248-244-2229 800-806-1871
Fax: 248-244-2230
*National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-6673
Fax: 203-798-2291
*National Heart, Lung, and Blood Institute (NHBLI)
National Institutes of Health, DHHS
31 Center Drive, Rm. 4A21 MSC 2480
Bethesda, MD, 20892-2480
http://www.nhlbi.nih.gov
Tel: 301-592-8573/240-629-3255 (TTY) Recorded Info: 800-575-9355
Interesting Facts
*People with Williams Syndrome can lead normal lives
*Have an IQ of about 60-75
Resources
*http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams
*http://ghr.nlm.nih.gov/condition=williamssyndrome#inheritance
*http://www.ninds.nih.gov/disorders/williams/williams.htm#What_research_is_being_done
*http://www.williams-syndrome.org/forparents/whatiswilliams.html#1
Thank You For Visiting This Site!!!
Williams Syndrome Organization
National Institute of Health
GHR Resource Site
Government Health Site
Send E-Mail to: leeshared@yahoo.com
Copyright © 2009 Alice Gowins. All Rights Reserved