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Goldenhar Syndrome

a.k.a oculo-auriculo-vetebral spectrum

Main Features

  • Anomalies of structures derived from the first and second bronchial arches
  • Hemifacial microsomia (facial asymmetry due to underdevelopment of the mandible and associated tissues)
  • Auricular anomalies
    • microtia
    • preauricular skin tags
    • atresia of external auditory canal
  • Conductive hearing loss
  • Vertebral defects
    • hemivertebrae
    • fused vertebrae

Eye Findings

  • Solid limbal (epibulbar) dermoids
  • Micropthalmia
  • Associated with Duane Syndrome
  • Strabismus
  • Lid colobomas or clefts

Other Findings

  • Facial nerve palsy ipsilateral to microtia
  • Cardiac defects
  • Kidney anomalies
  • One case of neuroblastoma

Etiology

  • Disruption of neural crest cell migration
  • Mostly sporadic, most do not have known genetic defects
  • rarely 7q21.11 deletion
  • occasional single gene-defects

Resources

  1. Tingaud-Sequeira et al., "Oculo-Auriculo-Vertebral Spectrum: New Genes and Literature Review on a Complex Disease" (Journal of Medical Genetics. 2022;59(5):417-427
  2. Puvabanditsin S. et al. "7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review" Cleft Palate Cranifac J. 2016;53(2):249-52
  3. Carvalho GJ et al. "Auditory and Facial Nerve Dysfunction in Patients With Hemifacial Microsomia."Archives of Otolaryngology--Head & Neck Surgery. 1999;125(2):209-12
  4. Michel-Adde C. et al. "Goldenhar syndrome and neuroblastoma: a chance association?" Acta Paediatr 2003;92(10):1223-5