phakomatosis /phak·o·ma·to·sis/ (fak″o-mah-to´sis) pl. phakomato´ses any of a group of congenital hereditary developmental anomalies having selective involvement of tissues of ectodermal origin, which develop disseminated glial hamartomas; examples are neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau disease.
phakomatosis
phakomatosis [fak″o-mah-to´sis]
phak·o·ma·to·sis (f k  -m -t s s)n. Variant of phacomatosis. |
phakomatosis
[fak′ōmətō′sis] pl. phakomatoses
Etymology: Gk, phako, lens, oma, tumor, osis, condition
(in ophthalmology) any of several hereditary syndromes characterized by benign tumorlike nodules of the eye, skin, and brain. The four disorders designated phakomatoses are neurofibromatosis (Recklinghausen's disease), tuberous sclerosis (Bourneville's disease), encephalotrigeminal angiomatosis (Sturge-Weber syndrome), and cerebroretinal angiomatosis (von Hippel-Lindau disease). Also spelled phacomatosis.
phakomatosis [fak″o-mah-to´sis]
any of five hereditary syndromes (neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau disease, and ataxia-telangiectasia) marked by disseminated hamartomas of the eye, skin, and brain.
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