Goldenhar Syndrome

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Other Names :  

Oculo-Auriculo-Vertebral (OAV) syndrome

What is Goldenhar Syndrome ?  

A rare congenital defect in which there is incomplete development of the ear, nose, soft palate, lip and mandible.

Cause(s) :  Genetic.

Symptoms :  
  • Shortened development of ear, nose, lip
  • Severe scoliosis
  • Hearing loss
  • Blindness
  • Total absence of ear or eye
  • Missing eyelids
  • Preauricular skin tags
  • Strabismus (squint in eyes)
  • Granulosa cell tumors
  • Abnormalities in internal organs (Heart, Lungs, Kidneys)
Diagnosis and Tests :  
  • Physical Examination
  • Hearing Test
  • Vision Test
  • X Ray
  • Ultrasound
Specialist to consult :  Pediatrics

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