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Williams Syndrome
Sunday, 27 July 2003
Wednesday, 18 February 2004

What

Williams Syndrome is a rare genetic disorder that is present at birth, and is caused by a deletion of genetic material on chromosome 7. This so-called non working or “broken gene” is not contagious, and we have no control of whether or not it occurs. The syndrome is characterized by distinctive physical features, developmental, and health problems.

Who

Williams syndrome occurs in about 1 in 20,000 live births in the United States and is a life long condition. Males and females are equally likely to be born with Williams syndrome.

Signs and Symptoms

Signs and symptoms are variable among each individual, so a person with Williams Syndrome may or may not exhibit all of the characteristics associated with the disorder In early childhood, overall developmental delay is seen, but with seemingly normal speech and expressive language. Learning problems are weakness in abstract reasoning, attention deficit disorder, low levels of daily living skills, age-related decreases in intellect, but with highly developed expressive language skills and an excessively social “cocktail” personality. Anxiety and depression are seen in teenagers. Facial features include an “elfin-like” appearance, full cheeks, a wide mouth, up-turned nose with a flat nasal bridge, a long flat area between the nose and upper lip, eyebrows that are raised in the center, a star-like iris (colored part of the eye), sensitive hearing, dental anomalies, and a head that is slightly smaller than usual. Also characteristic is a narrowing of arteries in the kidneys, lungs, and aorta valve (value to a major artery from the heart that supplies oxygenated blood to the body). Teenagers will have high blood pressure. High calcium levels are found in infants. Growth retardation, short stature, and slender limbs and trunk are also commonly seen.

Possible Causes

The pattern of occurrence is usually sporadic, meaning neither of the parents have Williams Syndrome nor do they carry the broken gene that causes the disorder. However, the broken gene and therefore Williams Syndrome is present in the child. There have also been several reported cases of familial transmission (passed on in affected families) as an autosomal dominant disease. In this case, one of the parents, either the mother or the father, has a copy of the broken gene and there is a 50% chance that the parent will pass it onto the child. If this non-working copy of the broken gene is passed on to the child, the child will have Williams Syndrome.

Diagnosis

The FISH test is the diagnostic method to detect the deletion in chromosome 7.

Treatment

There is no cure for Williams Syndrome, but there are treatments for the symptoms associated with the disorder. For example, the high calcium levels in the blood can be targeted by controlling the dietary intake of calcium and vitamin D. Medication is available to combat high blood pressure, anxiety and depression. Special education programs are available through the schools. Also, surgical intervention may be done to treat the narrowing of arteries.

Prognosis

The prognosis varies among individuals with the disorder, but in general, they will need life-long supervision. Life span may be affected by symptoms of the disorder such as kidney problems or high blood pressure, but there are also those individuals who master self-help skills and vocational skills to lead more satisfying lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The Williams Syndrome Association http://www.williams-syndrome.org A well-organized website with up to date information on WS. There is also information about available regional support and ongoing research. Williams Syndrome Foundation http://www.wsf.org The WSF is a great group, dedicated to finding opportunities in education, housing, employment and recreation for people with WS.

http://www.mdjunction.com/williams-syndrome

An online suport group

Google Search for Williams Syndrome

References and Sources

Griffith 5-min Clinical Consult 11th ed. (2003). William’s Syndrome. www.online.statref.com Cuniff C, et al. Health Care Supervision for Children with William’s Syndrome. American Academy of Pediatrics. 2001;107(5). home.mdconsult.com William’s Syndrome. www.clevelandclinic.org