| Goldenhar syndrome | |
|---|---|
| Other names | Oculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasia |
 | |
| Female with Goldenhar syndrome, showing preauricular skin tags | |
| Specialty | Medical genetics  |
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus.[1] It is associated with anomalous development of the first branchial arch and second branchial arch.[2]
The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption.
It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2.[3]
- ^ Zaka-ur-Rab Z, Mittal S (2007). "Optic Nerve Head Drusen in Goldenhar Syndrome" (PDF). JK Science. 9 (1): 33–34.[1]
- ^ Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S (2006). "Clinical manifestations in 17 Greek patients with Goldenhar syndrome". Genet. Couns. 17 (3): 359–70. PMID 17100205.
- ^ Sudarshan P Gaurkar; Khushboo D Gupta; Kirti S Parmar & Bela J Shah (2013). "Goldenhar Syndrome: A Report of 3 Cases". Indian Journal of Dermatology. 58 (3): 244. doi:10.4103/0019-5154.110876. PMC 3667321. PMID 23723509.