Frontofacionasal dysplasia
Frontofacionasal dysplasia
Definition
Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Also known as frontofacionasal dysplasia, Gollop syndrome — per MONDO