OAV dysplasia

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.

Autosomal dominant
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.

Article Title: 

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients

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 Sep;58(9):455-65.

PubMed ID: 
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