Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome)

In the total spectrum of OAVS are many syndromes. One of them is Goldenhar Syndrome (GHS). Goldenhar syndrome is a rare congenital defect in the craniofacial spectrum and is characterized by incomplete development in the formation of one side of the face and body. Mainly affected are Ear, Eye and Spine.

Affected are:

  • Ear: external (small) ear called microtia; accessory preauticular tags or pits; middle ear anomaly with variable deafness; inner ear defect;
  • Eye: epibulbar dermoid; lipodermoid; notch in upper lid; strabismus; coloboma; micropthalmia;
  • Spine: hemivertebrae or hypoplasia of vertebrae, most commonly cervical;
  • Face: Hypoplasia of malar, maxillary or mandibular region; macrostomia; hypoplasia of facial muscularture; hypoplasia of depressor anguli oris;
  • Oral: diminished to absent parotid secretion; anomalies in function or structure of tongue; malfunction of soft palate; cleft lip; cleft palate;
  • Central Nervous System: hydrocephalus; Arnold Chiari malformation; occipital encephalocele; agenesis of corpus callosum; calcification of falx cerebri; hypoplasia of septum pellucidum; enlarged ventricles; intracranial dermoid cyst; lipoma in corpus callosum; polymicrogyria;
  • Cardiac: ventricular and atrial septal defects; patent ductus arteriosus; tetralogy of Fallot; conotruncal defects; coarctation of aorta;
  • Genitourinary: ectopic or fused kidneys; renal agenesis; vesicoureteral reflux; ureteropelvic junction obstruction; ureteral duplication; multicystic dysplastic kidney;

It affects approximately 1/25.000 living births with a male:female ratio of 3:2


The severity of the abnormalities and symptoms varies by individual.

Last modified
11 May 2020





ORPHA:141132 Oculo-auriculo-vertebral spectrum

ORPHA:374 Goldenhar syndrome

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General Medical Guideline
Oculo-auriculo-vertebral spectrum is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis.
Hearing loss may occur due to abnormal development of the facial bones and incomplete or abnormal development of the ears. Neonatal screening may not have...
Auricular abnormalities found included microtia, preauricular appendages, ear lobe and external auditory canal agenesis, anotia, malformed ossicular chains, malformed ossicles and reduced oval window. In...
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