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Metachondromatosis(METCDS)

MedGen UID:
98377
Concept ID:
C0410530
Disease or Syndrome
Synonym: METCDS
SNOMED CT: Metachondromatosis (205481009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PTPN11 (12q24.13)
 
Monarch Initiative: MONDO:0007979
OMIM®: 156250
Orphanet: ORPHA2499

Definition

Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010). [from OMIM]

Clinical features

From HPO
Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Abnormal joint morphology
MedGen UID:
893053
Concept ID:
C0240083
Finding
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Multiple digital exostoses
MedGen UID:
870708
Concept ID:
C4025162
Neoplastic Process
Multiple exostoses originating in the fingers and toes.

Recent clinical studies

Etiology

Sharif B, Lindsay D, Saifuddin A
Skeletal Radiol 2022 Apr;51(4):747-762. Epub 2021 Jul 24 doi: 10.1007/s00256-021-03870-0. PMID: 34302201
Sethi S, Mehta S, Makkar V, Kaur S, Sohal PM
Saudi J Kidney Dis Transpl 2019 Jul-Aug;30(4):969-973. doi: 10.4103/1319-2442.265476. PMID: 31464257
Goud AL, Wuyts W, Bessems J, Bramer J, van der Woude HJ, Ham J
J Bone Joint Surg Am 2015 Jan 7;97(1):24-31. doi: 10.2106/JBJS.N.00121. PMID: 25568391
Vining NC, Done S, Glass IA, Parnell SE, Sternen DL, Leppig KA, Mosca VS, Goldberg MJ
Skeletal Radiol 2012 May;41(5):607-10. Epub 2011 Sep 4 doi: 10.1007/s00256-011-1261-9. PMID: 21892728
Le Merrer M, Fressinger P, Maroteaux P
J Med Genet 1991 Jul;28(7):485-9. doi: 10.1136/jmg.28.7.485. PMID: 1895320Free PMC Article

Diagnosis

McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R
Acta Orthop Belg 2016 Mar;82(1):102-5. PMID: 26984661
Superti-Furga A, Spranger J, Nishimura G
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):154-64. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31331. PMID: 22791316
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article
Bovée JV, Hameetman L, Kroon HM, Aigner T, Hogendoorn PC
J Pathol 2006 Jul;209(3):411-9. doi: 10.1002/path.1985. PMID: 16622899
Le Merrer M, Fressinger P, Maroteaux P
J Med Genet 1991 Jul;28(7):485-9. doi: 10.1136/jmg.28.7.485. PMID: 1895320Free PMC Article

Prognosis

McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R
Acta Orthop Belg 2016 Mar;82(1):102-5. PMID: 26984661
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article
Isidor B, Guillard S, Hamel A, Le Caignec C, David A
Am J Med Genet A 2007 Aug 15;143A(16):1919-21. doi: 10.1002/ajmg.a.31854. PMID: 17632779
Wenger DR, Birch J, Rathjen K, Tobin R, Billman G
J Pediatr Orthop 1991 May-Jun;11(3):294-300. PMID: 2056076
Le Merrer M, Fressinger P, Maroteaux P
J Med Genet 1991 Jul;28(7):485-9. doi: 10.1136/jmg.28.7.485. PMID: 1895320Free PMC Article

Clinical prediction guides

Rydzanicz M, Glinkowski W, Walczak A, Koppolu A, Kostrzewa G, Gasperowicz P, Pollak A, Stawiński P, Płoski R
Am J Med Genet A 2022 May;188(5):1482-1487. Epub 2022 Feb 2 doi: 10.1002/ajmg.a.62670. PMID: 35112464
Wang Z, Zou Y, Chen Y, Chen Y
Medicine (Baltimore) 2018 Apr;97(17):e0512. doi: 10.1097/MD.0000000000010512. PMID: 29703018Free PMC Article
Salinas-Torres VM, Salinas-Torres RA
Int J Pediatr Otorhinolaryngol 2016 Jun;85:19-21. Epub 2016 Mar 22 doi: 10.1016/j.ijporl.2016.03.021. PMID: 27240490
Bowen ME, Ayturk UM, Kurek KC, Yang W, Warman ML
PLoS Genet 2014;10(5):e1004364. Epub 2014 May 29 doi: 10.1371/journal.pgen.1004364. PMID: 24875294Free PMC Article
Hunter AG, Kozlowski K, Hochberger O
Can Assoc Radiol J 1995 Jun;46(3):202-8. PMID: 7538882

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