What is a Goldenhar syndrome? How do you approach to manage such case?

  • Also known as (Oculo-auriculo-vertebral syndrome/dysplasia/spectrum)
  • It is a wide spectrum of congenital anomalies that involves structure arising from first and second Branchial arches.
  • This syndrome is characterized by incomplete development of ear nose soft palate, lip and mandible.
  • This syndrome commonly involves one side of the body.
  • It is a variant of Hemifacial Microsomia.
  • This is the second most common facial birth defect ranking next only to cleft lip and palate.
  • M>F
  • First describe by Goldenhar as a trial of:
    • Epibulbar Choristomas
    • Prearicular skin appendage
    • Mandibulofacial dysostosis

To this trial Gorlin added vertebral anomalies and transverse facial clefts.

  • Development of Oulo-auriculo-vertebral complex takes place during the 4 week of gestation


  1. Interference to blood supply to this reason (primordial stapedial artery)
  2. Local Haemorrhage in the area
  3. Impaired interaction b/w neural crest c the mesoderm of the 1st and 2nd arches
  4. Mutations involving MSX genes.

Clinical features

  1. Facial asymmetry: 70%, clearly manifest c/in 1st 4 years of life.
  2. Hypoplasia of face:
    • predominantly horizontal /vertical/mixed.
    • Clearly seen along the oblique line extending b/w the malformed pinna and angle of mouth.
  3. Right side commonly affected.
  4. Upper 3rd of face, zygoma and lateral portion of the maxilla are affected ,Lower portion: mandible affected more (Ramus hypoplastic)
  5. Orbits: Usually symmetrical, interorbital distance
  6. Temporomandibular joint: displaced antero-inferiorly
  7. Muscle of mastication: severely hypoplastic
  8. Skin tags b/w the malformed ear and the corner of mouth.
  9. Miscrostomia/cleft lip/cleft palate
  10. velopharyngeal insufficiency
  11. Dental maturation asymmetric defective 1º enamel.
  12. Deformity of ear
  13. Deformities of ear
    • Epibulbar choriostomas
    • Colobamas of upper eye lid:70% medial third of upper eyelid
    • Impaired ocular mobility due to hypoplaisa of occulomotor nerves
  14. Deformity involving skull: Plagiocephaly(Frontal bone 20%)
  15. Occasionally cervical and rib anomalies, cardiac defects and renal abnormalities

Diagnosis of Goldenhar syndrome

  • No genetic or chromosomal test to identify
  • Diagnosis by HY and clinical examination
  • Other tests: Hearing assessment
  • X-ray spine
  • USG: Renal anomalies
  • Echocadiography: Heart


  • Varies greatly depending on the need of individuals
  • Mild case: no treatment.
  • Hearing loss: Hearing aids(BAHA)
  • Speech therapist
  • Ophthalmological problem: corrective surgery and glasses
  • Surgical intervention:
    • Correction of cardiac and spinal defect
    • Cosmetic surgery for facial abnormalities correction of cleft lip and palate.


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