Syndrome of Williams

The syndrome of Williams is the association of a Backwardness, of a congenital Cardiopathie, a facies characteristic and a behavior characteristic of the individual affecté.
There exist also various anomalies of the conjunctive Tissu and a Hypercalcémie

Etimology

Microdélétion hémizygote of 1  500  000 even basic of the locus q11.23 of the Chromosome 7 found in 95% of the cas.
This microdélétion comes indifferently from the paternal and maternal chromosome. This microdélétion involves until the suppression of more than 17 Gène S. the genes most often implied are:
  • ELN coding elastin
  • LIMK1
  • GTF21
  • STX1A

Diagnosis

Private clinic

The diagnosis of the syndrome of Williams is often made clinically on the association of:
  • characteristic Behavior
    • Very good contact. Nobody very nice, obliging, smiling. For example a scientist described a child with the SW by these words: “… it behaves with people as if there were in him a social magnetic magnet…”
    • the people reached of this syndrome are very sensitive to the noise and the majority of them have the Absolute pitch. They prove gifted to learn the congenital musique.
  • Cardiopathie
    • This pathology is present in 75% of the children reached. The cardiac anomaly most frequent is a sténose supravalvulaire of the aorta.
  • characteristic Facies
    • Usually described as the face of an elf the facies associates great face, full cheeks, the large mouth with éversée lower lip, the bulbous point of the nose and the hypoplasy malaire.
  • Backwardness
    • good verbal acquisition, being able to mask the backwardness trompeusement, and of the faded visual functions of perception. They are unable to reproduce a simple drawing. It is towards 3 to 6 years that the diagnosis is sometimes carried because of impossibility of following the schooling.
  • Hypercalcémie
10 _ (% of these?)_ of the children presents a Hypercalcémie néonatale.

Diagnosis

  • the research of the microdélétion by the use is usually done by the technique of FISH
  • Another method is the search for copy by PCR of three genes the most implied in the area criticizes is ELN , LIMK1 and GTF21
  • the last method is the search for allelic loss by study chromosomal of the two parents.

Description

The child was often born before term and small. He often presents digestive disorders with Vomissement S, abdominal pains responsible for frequent tears pouvent to simulate a Maladie of Hirschsprung. He is often hypotonic with a umbilical Hernie and has a strabism. He acquires the language tardily but this one is of good quality.

differential Diagnosis

This disease must be distinguished from other pathologies associating characteristic face, congenital cardiopathy and backwardness:

Prenatal diagnosis

The prenatal diagnosis is possible by Prélèvement of trophoblaste or Amniocentèse

The genetic Council

Recent studies show that 30% of the parents of children reached have an inversion of the critical zone without the significance of this inversion being clear. The need for a prenatal diagnosis requires a consultation of genetics, if possible before the Grossesse wished.

See too

  • Syndrome Donohue
  • William and us, with the editions the school of the leisures. Rodolphe and Maximilien are on vacation in their country house. Their neighbors changed: Agnes, and her two children, Simon and Rebecca. Rebecca suffers from the syndrome of Williams, Simon is obnubilated by his school results, to ensure a future Rebecca. Those which did not change, it is the Chechmate and its two buddies, the horrible brats of the village.

Sources

  • Orphanet
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 194050 * Colleen has Morris, Williams Syndrome In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

Associations

  • Assocaition Around Williams - Site on the syndrome of Belgian Williams
  • Association
  • French Association
  • Information public
  • Assocaition syndrome of Williams the Midday-Pyrenees Languedoc Roussillon

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