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Goldenhar syndrome

Subclass of Hemifacial microsomia

A highly variable but relatively characteristic set of eye, ear, malar and vertebral anomalies affecting approximately one in 3,000 to 5,000 births. While no single sign is considered mandatory to diagnosis, the main signs include: marked facial asymmetry, usually due to unilateral hypoplasia; prominent forehead; a number of ocular anomalies; one or more growths (tissue tags) on a line between the ear canal and the corner of the mouth; and pronounced malformations of the spine. Hearing loss, cardiac problems and a number of other signs are also possible, sometimes complicating diagnosis and requiring the experience of a multi-specialty center for a complete evaluation.