Williams syndrome or Williams-Beuren syndrome (SWB) was first described in 1961 in Great Britain. It combines malformations of the cardiovascular system, psychomotor delay, facial dysmorphia and a specific cognitive and behavioral profile. It is a rare genetic disease whose prevalence is estimated at 1 in 20 people (but it is likely that partial forms will go undiagnosed). (000)

The symptoms of Williams syndrome are very characteristic and make it easy to diagnose:

• A specific deformity of the face (the medical term “dysmorphia” is to be preferred);
• A neuropsychological and behavioral profile characterized by a moderate cognitive delay but relatively spared language skills, a deficit in visuospatial and learning abilities, a behavior described as “hypersociable” towards adults and a good disposition for communication. music ;
• Cardiovascular malformations, most commonly supraortic valve stenosis or pulmonary stenosis.

Other clinical signs are observable, such as digestive disorders, growth retardation, ophthalmological and oral problems, high blood pressure in adulthood and psychiatric disorders linked to great anxiety. A FISH exam (Fluorescent In Situ Hybridization) makes it possible to confirm the diagnosis, which is generally made around the age of 3 or 4 years, by visualizing the genetic microdeletion.

This syndrome was identified by the doctors Williams and Beuren each on their side, in Great Britain at the beginning of the Sixties. But it was not until more than three decades to find the genetic cause, in 60. The genetic anomaly in cause is a microdeletion of chromosomal region 1993q7. This microdeletion means a loss of genetic material on a chromosome, in an area where many genes are located, and therefore the deletion of several genes, including the one that codes for elastin. This protein is necessary for the proper functioning of the skin, lungs and blood vessels.

Most cases of Williams syndrome are not inherited but occur sporadically. However, sometimes the genetic deletion that causes the condition is passed on from parent to child.

Without knowing how to treat the genetic causes of this syndrome, its symptoms are treated. Damage to the cardiovascular system and the resulting arterial hypertension must be the subject of special attention, with management from an early age by pediatric cardiology teams and rigorous monitoring.

Learning difficulties (math more than reading) start in elementary school and very few adults with Williams syndrome can be independent. Educational care for children with Williams syndrome must therefore be carried out in a multidisciplinary framework involving pediatricians, psychomotor therapists, speech therapists and psychologists. (2)