Oculo-auriculo-vertebral spectrum (Goldenhar syndrome, hemifacial microsomia)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Oculo-auriculo-vertebral spectrum (Goldenhar syndrome, hemifacial microsomia) is a rare congenital disorder of craniofacial development affecting multiple organ systems. It usually occurs sporadically, although familial cases have been described, so absence of a relevant family history does not exclude the diagnosis. It affects males and females. A distinctive presentation may include facial asymmetry or hemifacial microsomia, external ear abnormalities, and ocular dermoids.

It can present with psychiatric features such as autism spectrum disorder (ASD) and behavioural difficulties. Intellectual disability, learning difficulties, and speech or language impairment may also occur. Neuropsychiatric manifestations are usually recognised during childhood.

From a morphologic lens perspective, other features include (but are not limited to):

  • Malar flattening

  • Midface retrusion

  • Micrognathia

  • Microtia

  • Preauricular tags or pits

  • Wide mouth

Other characteristic features include developmental delay or intellectual disability, hearing impairment, and structural neurological abnormalities. Other important manifestations include vertebral anomalies, cleft lip or palate, congenital heart defects, and renal abnormalities. Feeding, swallowing, and respiratory difficulties may occur, particularly when mandibular hypoplasia is severe.

Early diagnosis is important to identify and manage potentially significant craniofacial, ocular, auditory, neurological, cardiac, renal, airway, and developmental complications; to provide appropriate developmental, educational, and behavioural support; and to allow coordinated multidisciplinary management.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.