The Williams syndrome: an Italian collaborative study

Minerva Pediatr. 1996 Oct;48(10):421-8.


Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child
  • Child, Preschool
  • Facies
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Italy / epidemiology
  • Maternal Age
  • Parents
  • Paternal Age
  • Williams Syndrome / diagnosis
  • Williams Syndrome / epidemiology*
  • Williams Syndrome / genetics