Treacher-Collins Syndrome
- aka mandibulofacial dysostosis
- autosomal dominant; chrom 5
- facial abnormalities are symmetric
- normal intelligence
- antimongoloid palpebral fissure
- malar hypoplasia; mandibular hypoplasia
- partial lash deficit or coloboma in lower lid; malformed ears
- sensorineural hearing loss
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes