Calloso-Genital Dysplasia

Overview

Type of disease: Rare conditions

Calloso-Genital Dysplasia is a rare disorder characterized by a missing brain section (Corpus Callosum), which usually connects the two halves of the brain, eye problems, and absent menstruation in females. A missing corpus callosum leads to a number of problems that vary across individuals. Common problems include vision impairments, weak muscles, poor motor coordination, abnormal perception of pain, difficulty eating, and problems with basic physical tasks such as walking and sitting. Individuals with this disorder also have holes in their visual system. Hence, individuals with this disorder have severe vision problems, specifically being unable to process or understand what their eyes see. The severity of the disorder depends on the size of the defect. Absent menstruation affects female reproduction and individuals may not be able to have children. Treatment is developed on a case-by-case basis and depends on the specific needs on the patient given brain dysfunction. Specialists may recommend surgery to fix eye problems to improve vision.

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