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Doctors resources for Williams syndrome

Williams syndrome is a rare, congenital disorder which occurs in 1 in 10,000 live births.

Clinical diagnosis of Williams syndrome is based on a variety of physical and developmental characteristics. Medical diagnosis shows a deletion of genetic material including the elastin gene on chromosome #7.

There is no cure for Williams syndrome. Treatment is symptomatic and supportive. Individuals with Williams syndrome need regular monitoring for potential medical problems by a physician familiar with the disorder, as well as specialized services to maximize their potential.

Research Update: Old research suggested that reversal of the genes (that is, inversion rather than deletion of the genetic material) could cause a pattern of problems which resembles Williams syndrome (so-called "atypical Williams syndrome"). However, recent research of individuals with an inversion who were at one time diagnosed as having Williams syndrome (including the individuals referred to in the original article by Osborne et al.), shows that although several of the people had mental retardation and/or ADHD, none of them shared any traits that are specific to WS. At this point, it is also known that 28-35% of transmitting parents have inversions as do 6-7% of nontransmitting parents (an estimate of the inversion rate in the general population). These parents definitely do not have a pattern of problems that resembles WS.

With this new research in mind, it is important to stress that WS is a genetic diagnosis and an individual who does not have the gene deletion does not have WS (i.e. a person who was clinically diagnosed with WS but was later found not be have a deletion in fact does NOT have WS).

This area is intended to help physicians treating children with Williams syndrome get oriented to the special conditions, developmental milestones and medical needs of these children.