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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Proteus Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Proteus Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Limb Deformities, Congenital > Proteus Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Limb Deformities, Congenital > Proteus Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Hamartoma Syndrome, Multiple > Proteus Syndrome
Neoplasms > Neoplastic Syndromes, Hereditary > Hamartoma Syndrome, Multiple > Proteus Syndrome
Neoplasms > Neoplasms, Multiple Primary > Hamartoma Syndrome, Multiple > Proteus Syndrome
Neoplasms > Hamartoma > Hamartoma Syndrome, Multiple > Proteus Syndrome

Preferred term

Proteus Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

  • Elephant Man Disease

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-XBDTQGR4-1

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RDF/XML TURTLE JSON-LD Created 6/21/91, last modified 7/8/13