Hallermann–Streiff syndrome

Also known as: Oculomandibulofacial syndrome

Congenital cataract, mandibular hypoplasia and hypotrichosis.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Congenital malformation
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: GJA1

Etiology & mechanism

GJA1 mutations affecting gap junctions.

Gene(s) involved (1)

GJA1

Symptoms & signs (7)

beaked nosecongenital cataractdental anomalieshypotrichosismandibular hypoplasiamicrophthalmiashort stature

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