What is it?
It is a genetic disease caused by the loss of 28 genes on one of the two chromosomes 7. It is a genetic accident, non-hereditary. Parents are not at the origin of this anomaly which is present from birth and reaches as many girls as boys. Its incidence is reported to be one in 7500. Williams syndrome was first described in 1961. Since 1991, its diagnosis has been confirmed by chromosome analysis (FISH test).
The symptoms of this disease are numerous and vary in intensity from one patient to another. Most do not have all the symptoms, which makes diagnosis more difficult. There are cases of people who have discovered their disease in old age.
The main symptoms are:
– A cardiac malformation, moderate to very serious
– Infant hypercalcemia
– Mild to moderate mental retardation
– Common physical characteristics (modification of facial features) and behavioral characteristics
– A delay in psychomotor and language development
– Difficulties of reference in time and space
– Hypersensitivity to noise
– Difficulties to feed, to sleep.
People with this syndrome have a hypersociable type of behavior, easily going to others. They have a hypersensitivity to noise and music, great language skills, and good auditory memory.
Microdeletion (loss of a chromosome fragment less than 4 million base pairs) from one area of chromosome 7 is the leading cause of Williams and Beuren syndrome (95% of cases).
Treatment and follow-up
At present, no treatment can cure him. On the other hand, many specialists are familiar with this syndrome and accompany people with it, especially young children, with practices that promote learning.
As this syndrome is a rare genetic disorder characterized, in particular, by an anomaly of development, the educational care of affected children must be done in a multidisciplinary framework involving pediatrician, orthodontist, psychomotor, speech therapist and psychologist. A child well accompanied in his various learning, supported by educational and medical teams as well as by the family, has every chance of becoming an adult capable of assuming a job and an independent life.