Septo-optic dysplasia sequence

Common Name(s)

Septo-optic dysplasia sequence

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum ({8:Dattani et al., 1998}). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by {24:Webb and Dattani, 2010}). Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
 

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biological Clock Dysfunction in Optic Nerve Hypoplasia
 

Status: Recruiting

Condition Summary: Biological Clock Dysfunction; Optic Nerve Hypoplasia

 

Last Updated: 7 Feb 2011

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