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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]
References
- Septo-optic dysplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia. Accessed July 13, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Septo-optic dysplasia. Click on the link to go to GHR and review the information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Septo-optic dysplasia. Click on the link to go to OMIM and review these resources.