Genetic disorders and syndromes associated with microtia^[1]

	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

AD: autosomal dominant; AR: autosomal recessive; XLR: X-linked recessive.

References:

Bartel-Friedrich S. Congenital Auricular Malformations: Description of Anomalies and Syndromes. Facial Plast Surg 2015; 32:567.

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Genetic disorders and syndromes associated with microtia[1]