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Goldenhar syndrome
Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.
The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ/vertebrae disruption.
It affects between 1/3,500 to 1/26,000 live births, with a male:female ratio of 3:2.
==Eponym==
The condition was documented in 1952 by Belgian ophthalmologist Maurice Goldenhar (1924-2001).〔M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.〕
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