Patient Information

Related Images

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Ear malformations in Goldenhar spectrum disorder
External ear malformations in Goldenhar spectrum disorder. Note pretragal fistula
Ocular dermoid in Goldenhar spectrum disorder
Temporal ocular dermoid in right eye
Dermoid at limbus in a patient with Goldenhar disorder
Limbal dermoid in Goldenhar spectrum (Courtesy of

Goldenhar Syndrome Spectrum

Clinical Characteristics

Ocular Features

There is considerable clinical heterogeneity in this syndrome.  Upper eyelid colobomas and ocular dermoids or lipdermoids are the primary ocular signs (lower lid colobomas are more common in Treacher Collins-Franceschetti syndrome [154500]).  The caruncles may be dysplastic, displaced or even bilobed.  Iris, optic nerve and chorioretinal colobomas also occur.  Microphthalmia is uncommon.  All ocular features are usually unilateral but are bilateral in a minority of cases.

Systemic Features

The facial asymmetry (hemifacial microsomia) can be a striking feature.  The side with microsomia may have a malformed external auricle, preauricular tags, pretragal fistulas, and microtia or even atresia of the external auditory canal.  A wide variety of other anomalies are often found including left lip and palate, mandibular hypoplasia, vertebral anomalies, facial nerve paralysis, congenital heart defects, and conductive hearing loss.  Mental deficits are often present along with features of the autism spectrum in 11%.


Most cases are sporadic but other family patterns support autosomal recessive and autosomal dominant inheritance with the latter being the most common.  A locus at 14q32 has been associated with OAVS but so far no mutant gene has been identified.

Treatment Options

Some patients benefit from scoliosis and cosmetic surgery.  Assistive hearing devices can be helpful and children especially should be monitored for physical and cognitive development.


Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venancio M, Ramos F, Sa J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Oculo-Auriculo-Vertebral Spectrum: CLINICAL and Molecular Analysis of 51 Patients. Eur J Med Genet. 2015 Jul 20. pii: S1769-7212(15)30006-9. doi: 10.1016/j.ejmg.2015.07.003. [Epub ahead of print].

PubMed ID: 

Stromland K, Miller M, Sjogreen L, Johansson M, Joelsson BM, Billstedt E, Gillberg C, Danielsson S, Jacobsson C, Andersson-Norinder J, Granstrom G. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007 Jun 15;143A(12):1317-25.

PubMed ID: 

Nijhawan N, Morad Y, Seigel-Bartelt J, Levin AV. Caruncle abnormalities in the oculo-auriculo-vertebral spectrum. Am J Med Genet. 2002 Dec 15;113(4):320-5. Erratum in: Am J Med Genet. 2003 Apr 30;118A(3):304.

PubMed ID: