Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome

Overview

Type of disease: Rare conditions

Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome refers to a form of intellectual disability characterized mainly by below-average mental ability, an opening in the roof of the mouth (cleft palate), and a defect in the visual system. Individuals with this form of intellectual disability often have difficulty with breathing or eating because of their cleft palate. Like other individuals with intellectual disability, an individual with this condition often has problems with reasoning and solving problems, as well as performing day-to-day tasks. Individuals with this form of intellectual disability also have severe eye problems, specifically being unable to process what they see. The severity of the eye problems depends on the size of the defect. The condition is often diagnosed during childhood. Doctors diagnose this form of intellectual disability if eye problems and an opening in the roof of the mouth are observed. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Face specialists may suggest individuals undergo surgery to fix the opening. Eye specialists may also suggest individuals undergo surgery to repair the defect in the visual system. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

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