Septo-optic dysplasia

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Septo-optic dysplasia

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Summary

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve that leads to blindness or visual impairment; pituitary gland dysfunction that causes various hormonal deficiencies; and absence of the septum pellucidum, a thin membrane that separates the brain's lateral ventricles. Symptoms include nystagmus, visual impairment, seizures, short stature due to growth hormone deficiency, diabetes insipidus due to vasopressin deficiency, and hyperbilirubinemia. There is no cure for SOD, but various treatments and therapies can help manage its symptoms, including hormone replacement therapy, special education, and rehabilitation services.

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