DISEASES Neoplasms [C04] Neoplasms Hamartoma [C04.445] Hamartoma Hamartoma Syndrome, Multiple [C04.445.435] Hamartoma Syndrome, Multiple Proteus Syndrome [C04.445.435.500] Proteus Syndrome DISEASES Neoplasms [C04] Neoplasms Neoplasms, Multiple Primary [C04.651] Neoplasms, Multiple Primary Hamartoma Syndrome, Multiple [C04.651.435] Hamartoma Syndrome, Multiple Proteus Syndrome [C04.651.435.500] Proteus Syndrome DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Diseases, Developmental [C05.116.099] Bone Diseases, Developmental Acro-Osteolysis [C05.116.099.052] Acro-Osteolysis Basal Cell Nevus Syndrome [C05.116.099.105] Basal Cell Nevus Syndrome Dwarfism [C05.116.099.343] Dwarfism Dysostoses [C05.116.099.370] Dysostoses Funnel Chest [C05.116.099.386] Funnel Chest Gigantism [C05.116.099.492] Gigantism Leg Length Inequality [C05.116.099.655] Leg Length Inequality Marfan Syndrome [C05.116.099.674] Marfan Syndrome Osteochondrodysplasias [C05.116.099.708] Osteochondrodysplasias Osteolysis, Essential [C05.116.099.736] Osteolysis, Essential Pectus Carinatum [C05.116.099.739] Pectus Carinatum Platybasia [C05.116.099.742] Platybasia Proteus Syndrome [C05.116.099.750] Proteus Syndrome DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Limb Deformities, Congenital [C05.660.585] Limb Deformities, Congenital Arachnodactyly [C05.660.585.174] Arachnodactyly Brachydactyly [C05.660.585.262] Brachydactyly Ectromelia [C05.660.585.350] Ectromelia Lower Extremity Deformities, Congenital [C05.660.585.512] Lower Extremity Deformities, Congenital Polydactyly [C05.660.585.600] Polydactyly Proteus Syndrome [C05.660.585.620] Proteus Syndrome Syndactyly [C05.660.585.800] Syndactyly Thanatophoric Dysplasia [C05.660.585.984] Thanatophoric Dysplasia Upper Extremity Deformities, Congenital [C05.660.585.988] Upper Extremity Deformities, Congenital DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Limb Deformities, Congenital [C16.131.621.585] Limb Deformities, Congenital Arachnodactyly [C16.131.621.585.174] Arachnodactyly Brachydactyly [C16.131.621.585.262] Brachydactyly Ectromelia [C16.131.621.585.350] Ectromelia Lower Extremity Deformities, Congenital [C16.131.621.585.512] Lower Extremity Deformities, Congenital Polydactyly [C16.131.621.585.600] Polydactyly Proteus Syndrome [C16.131.621.585.620] Proteus Syndrome Syndactyly [C16.131.621.585.800] Syndactyly Thanatophoric Dysplasia [C16.131.621.585.984] Thanatophoric Dysplasia Upper Extremity Deformities, Congenital [C16.131.621.585.988] Upper Extremity Deformities, Congenital

Proteus Syndrome - Preferred

Concept UI	M0025456
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.
Preferred term	Proteus Syndrome
Entry term(s)	Elephant Man Disease

Proteus-Like Syndrome - Related but not broader or narrower

Concept UI	M0499749
Preferred term	Proteus-Like Syndrome
Entry term(s)	Proteus Like Syndrome Syndrome, Proteus-Like