Williams Syndrome

Question 1

What is the genetic defect in Williams syndrome?

Answer 1

Deletion of one copy of chromosome 7q11

Question 2

What are the clinical manifestations of Williams Syndrome?

Answer 2

1. Mild to moderate MR 2. Heart abnormalities e.g. supravalvular aortic stenosis, peripheral pulmonic stenosis 3. Short stature 4. Facial dysmorphism i.e. puffy eyes, flat midface, epicanthal folds 5. Hyperacusis 6. Infantile hypercalcemia 7. Cocktial personality (friendly with strangers, verbal skills exceed their visuospatial skills) 8. Strong aptitude for music