Catalog
Williams-Beuren syndrome
No MMS code
Link to WHO Definition
Williams-Beuren syndrome – http://id.who.int/icd/entity/1644383468
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.
Parents
- LD2F.1 Syndromes with multiple structural anomalies, not of environmental origin
- Renal artery stenosis due to congenital abnormality
- Proximal deletions of the long arm of chromosome 7
- Chromosomal disorders affecting the skin
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature