Goldenhar syndrome

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.

Aplasia/Hypoplasia of the thumb

Hypoplastic/small or absent thumb.


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PMID (PMCID)