Gene(s) involved | Inheritance pattern | |
Ablepharon-macrostomia syndrome | TWIST2 | AD |
Antley-Bixler syndrome | POR, FGFR2 | AR |
Auriculocondylar syndrome | GNAI3, PLCB4, EDN1 | AD, AR |
Branchiooculofacial syndrome | TFAP2A | AD |
Branchiootic syndrome, otofaciocervical syndrome | EYA1, SIX1, SIX5 | AD |
CHARGE syndrome | CHD7 | AD |
Congenital deafness, with inner ear agenesis, microtia, and microdontia | FGF3 | AR |
Even-plus syndrome | HSPA9 | AR |
Hemifacial microsomia (Goldenhar syndrome) | Variable | Sporadic, AD |
Klippel-Feil syndrome | GDF6 | AD |
Mandibulofacial dysostosis (MFD): | ||
Treacher Collins syndrome | TCOF1 | AD |
MFD, guion-almeida type | EFTUD2 | AD |
Mandibulofacial dysostosis with alopecia | EDNRA | AD |
Diamond-Blackfan anemia with MFD | TSR2, RPS26, RPS28 | XLR, AD |
Meier-Gorlin syndrome | ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, GMNN | AR |
Microtia, hearing impairment, and cleft palate | HOXA2 | AD, AR |
Oculoauricular syndrome | HMX1 | AR |
Townes-Brocks syndrome | SALL1, DACT1 | AD |
Van Maldergem syndrome | FAT4 | AR |
Walker-Warburg syndrome | POMT1 | AR |
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