Proteus Syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0085261

MSH: Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.,JABL: An overgrowth syndrome with a wide spectrum of abnormalities, including gigantism of the hands and/or feet, pigmented nevi with variable distribution, hemihypertrophy which may be limited to face, ears, shoulder girdle, thorax, and arms or involve the entire side of the body. Hypertrophic changes are generally associated with subcutaneous hamartomas, skull defects, occasional cardiomyopathy, early growth acceleration, and cystiform pulmonary abnormalities. The complete phenotype of this syndrome often evolves over a period of time,

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