Dictionary of Human Evolution and Biology

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Proteus Syndrome

Heritable condition characterized by highly variable and asymmetrical growths, swelling, limb or digit gigantism, and multiple hyperostoses of the calvaria, facial bones, and mandible. Asymmetries extend to the postcranial tissues in rare cases. An autosomal dominant lethal allele that survives in tissues of chimeric or mosaic individuals has been suggested; hence the rarity. This syndrome has been proposed as likely in the case of John Merrick, the elephant man, rather than neurofibromatosis. Aka elattoproteus syndrome.

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