Craniofacial microsomia (CFM) also termed hemifacial microsomia, oculo-auricular-vertebral spectrum (OAVS) or Goldenhar syndrome, is a craniofacial developmental disorder of variable expressivity and severity. The craniofacial anomalies include ear dysplasia, microtia, and preauricular tags, and originate from the first and second pharyngeal arch-derived tissues. SF3B2 is the most common causative gene to date, however, the molecular basis for the majority of CFM remains elusive. Recently, it has been reported that FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02673 Craniofacial microsomia
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE
Title
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
