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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Septo-optic dysplasia


Other Names for this Disease

  • De morsier syndrome
  • Hypopituitarism and septooptic 'dysplasia'
  • Septo-optic dysplasia with growth hormone deficiency
  • Septooptic dysplasia
  • SOD
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Cause

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What causes septo-optic dysplasia?

In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development.[1]

At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia.[1]

Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.[1]

Last updated: 8/10/2010

References
  1. Septo-optic dysplasia. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia. Accessed 7/13/2012.


Other Names for this Disease
  • De morsier syndrome
  • Hypopituitarism and septooptic 'dysplasia'
  • Septo-optic dysplasia with growth hormone deficiency
  • Septooptic dysplasia
  • SOD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.