phakomatosis

phakomatosis

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phak·o·ma·to·sis (fak″o-mə-toґsis) pl. phakomatoґses [phakoma + -osis] any of a group of congenital and hereditary developmental anomalies having in common selective involvement of tissues of ectodermal origin (the central nervous system, eye, and skin) and development of hamartomas in these tissues. The group includes neurofibromatosis, tuberous sclerosis complex, Sturge-Weber syndrome, von Hippel-Lindau disease, and ataxia-telangiectasia. Called also neurocutaneous syndrome. Written also phacomatosis.

Medical dictionary. 2011.

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