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Diseases

Genetic and Rare Diseases Information Center (GARD)

Syndromic microphthalmia, type 3


Other Names for this Disease
  • MCOPS3
  • Microphthalmia and esophageal atresia syndrome
  • Anophthalmia clinical with associated anomalies
  • Anophthalmia esophageal genital syndrome
  • AEG syndrome
Related Diseases
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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.[1][2][3] Treatment is based on the signs and symptoms present in each person.[3]
Last updated: 2/29/2016

References

  1. MICROPHTHALMIA, SYNDROMIC 3. OMIM. August 2015; http://www.omim.org/entry/206900.
  2. SOX2 anophthalmia syndrome. Genetics Home Reference. March 2009; http://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome.
  3. Kathleen A Williamson, PhD and David R FitzPatrick, MD, FRCP(EDIN). SOX2-Related Eye Disorders. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1300.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Syndromic microphthalmia, type 3. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Syndromic microphthalmia, type 3. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MCOPS3
  • Microphthalmia and esophageal atresia syndrome
  • Anophthalmia clinical with associated anomalies
  • Anophthalmia esophageal genital syndrome
  • AEG syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.