Fact-sheet: Oculo auriculo vertebral dysplasia - Goldenhar's syndrome


Updated on 06/29/2020 at 10:58 AM

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Definition

Goldenhar syndrome, or oculo-auriculo-vertebral dysplasia, is an autosomal dominant disorder characterized by a set of malformations affecting mainly the auditory system, the ocular system, and the skeleton, sometimes associated with intellectual disability

It results from a developmental defect affecting the first and second branchial arches.

Facial involvement:

  • Swallowing disorders or uvula malformation
  • Set of malformations including: Facial asymmetry
  • Unilateral malformation of the external ear (absence of the pinna) or absence of the ear canal associated with fistulas, sometimes with associated hypoplasia and hypoacusis. Malformation of the internal ear ossicles, conductive hearing loss
  • Facial palsy
  • Hypoplasia of the mandible
  • Ocular involvement associated with a small dermoid or epidermoid-type tumor located on the corneal limbus
  • Eyelid coloboma
  • Microphthalmia

Trunk abnormality

  • Congenital heart disease or cardiac malposition with pulmonary aplasia or hypoplasia
  • Malformations of the urinary tract and external genitalia
  • Aplasia of a breast

Skeletal abnormality

  • Thumb hypoplasia
  • Various skeletal malformations involving the vertebrae and spine, or hip malpositioning of the fusion type
  • Congenital torticollis, present since birth