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Goldenhar syndrome

Orpha number ORPHA374
Synonym(s) Expanded spectrum of hemifacial microsomia
Facioauriculovertebral dysplasia
OAV dysplasia
OAVS
Oculoauriculovertebral dysplasia
Oculoauriculovertebral spectrum
Oculoauriculovertebral syndrome
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Not applicable
Age of onset Antenatal
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS
  • C0265240
  • C0432130
MeSH
  • D006053
MedDRA -

Summary

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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Detailed information

Summary information
Clinical genetics review
  • EN (2009)
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