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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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Symptoms


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What symptoms are associated with septo-optic dysplasia?

Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development.[1][2] Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.[2]
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.
  2. NINDS Septo-Optic Dysplasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm. Accessed 7/13/2012.