Description of Williams syndrome
Descripción del síndrome de Williams
- Date
- 1961 · confidence high
- Place
- Auckland, New Zealand
- Credited to
- John Cyprian Phipps Williams
- Field
- Life & health
What was discovered
New Zealand cardiologist John C. P. Williams described in 1961 a congenital syndrome, now called Williams-Beuren syndrome, characterized by supravalvular aortic stenosis, mild intellectual disability, distinctive facial features and an unusually sociable personality, caused by the loss of about twenty genes on chromosome 7.
German pediatrician Alois Beuren independently described the same clinical picture shortly afterward, which is why the syndrome is also known as Williams-Beuren syndrome.
What it led to
- the later identification of the chromosome 7q11.23 microdeletion as the genetic cause (1993)
- a study model for the genetics of sociability and language
- improved diagnosis and cardiovascular follow-up of affected individuals