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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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Overview

Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.[1]
Last updated: 7/13/2012

References

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

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 Septo-optic dysplasia. Click on the link to view a sample search on this topic.
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.