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ALL / Clinical Sciences
William's syndrome
William's syndrome
William's syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7Features
- elfin-like facies
- characteristic like affect - very friendly and social
- learning difficulties
- short stature
- transient neonatal hypercalcaemia
- supravalvular aortic stenosis
Diagnosis is made by FISH studies
+PassMedicine Notes
William's syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
Features- elfin-like facies
- characteristic like affect - very friendly and social
- learning difficulties
- short stature
- transient neonatal hypercalcaemia
- supravalvular aortic stenosis
Diagnosis is made by FISH studies
