Syndromic microphthalmia, type 3

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Disease Overview

Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner.[10784][10785][10786] Treatment is based on the signs and symptoms present in each person.[10786]


Synonyms

  • MCOPS3
  • Microphthalmia and esophageal atresia syndrome
  • Anophthalmia clinical with associated anomalies
  • Anophthalmia esophageal genital syndrome
  • AEG syndrome
  • Anophthalmia microphthalmia esophageal atresia
  • SOX2 anophthalmia syndrome
  • SOX2-related eye disorders

For more information, visit GARD.

National Organization for Rare Disorders