Proteus Syndrome is a newly described genetic disorder characterized by abnormalities in several organ systems, including most prominently skin and musculoskeletal. Joseph Carey Merrick, the "Elephant Man" from England, was originally though to have von Recklinghausen Neurofibromatosis. Now, many scientist consider that he had Proteus Syndrome.

According to the OMIM, Proteus Syndrome (PS) is characterized by "generalized, unilateral or localized overgrowth of any tissue hemihypertrophy" caused by a "somatic mosaic, sporadic" mutation. Thus, it may present as an isolated case in a single patient without affecting any other family members.

For more information on Proteus Syndrome, try these web links-

Online Mendelian Inheritance in Man (OMIM):
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The Proteus Foundation:
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Joseph (John) Merrick:
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Proteus Syndrome Patient Brochure:
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