Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Williams syndrome

ORPHA904
Synonym(s) Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
Prevalence Unknown
Inheritance Unknown
or Not applicable
Age of onset Neonatal
Antenatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C0175702
MeSH
  • D018980
MedDRA
  • 10049644

Summary

Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile. The incidence of typical forms is 1/20 000 births, however, partial forms also exist but their incidence is unknown. Children suffering from Williams syndrome present with a very characteristic face: flattened nasal bridge with a bulbous tip, large mouth with a wide everted lower lip, chubby cheeks, periorbital oedema, epicanthus and often stellar iris. With age, the face becomes narrower with coarser features. The cognitive profile is dominated by visuospatial deficits, which contrast with relatively well-preserved language skills. Affected children display hypersocial behaviour and interact well with other people. They have a distinctive sensitivity to noise and have good musical abilities. The prevalence of tooth decay is increased, and sometimes associated with enamel hypoplasia. Ophthalmologically, 40% of the affected children present with strabismus and/or refraction disorders. Vascular malformations such as SVAS and pulmonary or renal artery stenosis, which can lead to renovascular arterial hypertension, can be observed from birth. Hypercalcaemia can progress to nephrocalcinosis. Williams syndrome is caused by a chromosomal microdeletion in the q11.23 region of one copy of chromosome 7. It can not be detected conventional karyotyping and is revealed by FISH (Fluorescent In Situ Hybridization) analysis, which leads to diagnosis in 95% of the cases. This microdeletion, which generally occurs sporadically, results in the loss of many genes, including the elastin gene. Vascular malformations require regular follow-up as well as dedicated management. For this reason, children affected by Williams syndrome should be managed by a paediatric cardiology team with knowledge of this pathology. The management of arterial hypertension requires a combination of pharmaceutical treatment with a healthy diet and lifestyle. The decision to opt for surgical repair of renal artery stenosis must take into account the global involvement of the vascular walls in this pathology. Hypercalcaemia is treated by a calcium-restricted diet. Arterial tension and renal function require life-long surveillance. Educational management of children affected by Williams syndrome should be proposed in a multidisplinary setting involving paediatricians, orthodontists, psychomotricists, speech therapists and psychologists. Adult patients are rarely self-sufficient.

Expert reviewer(s)

  • Pr Brigitte GILBERT-DUSSARDIER

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Review article
  • FR (2006,pdf)
Clinical practice guidelines
  • FR (2014)
Guidance for genetic testing
  • EN (2014,pdf)
Article for general public
  • FR (2012,pdf)
  • EN (2013)
Clinical genetics review
  • EN (2013)
Disability factsheet
  • FR (2013,pdf)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.