Williams Syndrome
Deletion of elastin gene and LIM kinase, both on chrom 7q11.
- General: mild MR, hoarse voice
- Facies: elfin-like (epicanthal folds, periorbital fullness,
stellate
pattern in iris, strabismus, antevertaed nares, flat nasal bridge (pug nose),
long philtrum, prominent lips), hyperacusis,
dental anomalies (enamel hypoplasia),
renal anomalies (renal artery stenosis can occur)
- Heart: supravalvular aortic
stenosis, peripheral pulmonary branch stenosis,
pulmonary stenosis, VSD
- +/-
Hypercalcemia
- inguinal hernias