Preferred Label : Frontofacionasal dysostosis;
ICD-11 definition : Fronto-facio-nasal dysostosis is a inherited skeletal disorder 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).;
Origin ID : 656215307;
Automatic exact mappings (from CISMeF team)
Fronto-facio-nasal dysostosis is a inherited skeletal disorder 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).
