Goldenhar syndrome

The Goldenhar syndrome is a after the Belgian- American ophthalmologist and GP Maurice Goldenhar (1924-2001) named congenital malformation. It usually affects only one side of the face and is characterized by an ear malformation, by a chin shifted to the affected side, one side higher standing of the mouth, an enlarged eye or a missing eye. Other symptoms may include hearing problems, limited facial expressions, unilaterally reduced tongue ankylosis of the cervical spine or possible increased allergy inclination.

The exact origin of Goldenhar syndrome is not fully understood. It is likely to be an interruption of the blood supply or bleeding in the tissues, which later develop into ears and jaw, in the embryonic period ( 30th to 45th day ). It result from this development disturbances in the first and second branchial arch and the first pharyngeal pouch. The severity of symptoms depends on the timing and the extent of damage. There are in some cases also evidence of a genetic cause, but most cases occur sporadically. The risk of a patient with Goldenhar syndrome, this weiterzuvererben to his offspring, is very low. Various environmental factors are discussed as the cause. The incidence of Goldenhar's syndrome is from 1:5.600 to 1:26.550.

Synonyms

Equivalent designations are as follows:

  • Goldenhar complex of symptoms
  • Goldenhar - Gorlin syndrome
  • Dysplasia oculo - auricular
  • Dysplasia oculo - auriculo - vertebral
  • Oculo - aurikuläres syndrome
  • Oculo - auriculo -vertebral dysplasia
  • Hemifaciale microsomia
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