Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Musculoskeletal Abnormalities
Limb Deformities, Congenital
Preferred term
Proteus Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Elephant Man Disease
Note
- hamartomas & multiple abnorm; "Proteus" refers to the sea god in Greek mythol who could assume many forms; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Scope note
- 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.
History note
- 92
In other languages
-
Finnish
-
Proteus-syndrooma
-
Swedish
URI
http://www.yso.fi/onto/mesh/D016715
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