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Goldenhar syndrome

Synonym(s) Expanded spectrum of hemifacial microsomia
Facioauriculovertebral dysplasia
OAV dysplasia
Oculoauriculovertebral dysplasia
Oculoauriculovertebral syndrome
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
or Not applicable
Age of onset Neonatal
  • Q87.0
  • C0265240
  • C0432130
  • D006053
MedDRA -


Disease definition

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

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