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Melorheostosis with osteopoikilosis

MedGen UID:
461045
Concept ID:
C3149695
Disease or Syndrome
Synonym: Melorheostosis with Osteopoikilosis
SNOMED CT: Mixed sclerosing bone dystrophy (1197053003); Melorheostosis with osteopoikilosis (1197053003); MSBD (mixed sclerosing bone dystrophy) syndrome (1197053003)
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.
 
Monarch Initiative: MONDO:0015995
OMIM®: 166700; 607844
Orphanet: ORPHA1879

Definition

A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Melorheostosis with osteopoikilosis

Recent clinical studies

Etiology

Wordsworth P, Chan M
Calcif Tissue Int 2019 May;104(5):530-543. Epub 2019 Apr 15 doi: 10.1007/s00223-019-00543-y. PMID: 30989250
De Ridder R, Boudin E, Mortier G, Van Hul W
Curr Osteoporos Rep 2018 Jun;16(3):256-268. doi: 10.1007/s11914-018-0439-7. PMID: 29656376
Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S
BMC Med Genet 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. PMID: 20618940Free PMC Article
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM
Eur Radiol 2000;10(9):1423-33. doi: 10.1007/s003300000495. PMID: 10997431
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Wordsworth P, Chan M
Calcif Tissue Int 2019 May;104(5):530-543. Epub 2019 Apr 15 doi: 10.1007/s00223-019-00543-y. PMID: 30989250
Kotwal A, Clarke BL
Curr Osteoporos Rep 2017 Aug;15(4):335-342. doi: 10.1007/s11914-017-0375-y. PMID: 28676968
Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, de Mey J, De Maeseneer M
Br J Radiol 2016 Jun;89(1062):20150349. Epub 2016 Feb 22 doi: 10.1259/bjr.20150349. PMID: 26898950Free PMC Article
Wadhwa V, Chhabra A, Samet JD
Ann Saudi Med 2014 Nov-Dec;34(6):547-50. doi: 10.5144/0256-4947.2014.547. PMID: 25971832Free PMC Article
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM
Eur Radiol 2000;10(9):1423-33. doi: 10.1007/s003300000495. PMID: 10997431

Prognosis

Gutierrez D, Cooper KD, Mitchell AL, Cohn HI
Pediatr Dermatol 2015 Sep-Oct;32(5):e219-20. Epub 2015 Jul 2 doi: 10.1111/pde.12634. PMID: 26135202
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR
Hum Mutat 2006 Mar;27(3):290. doi: 10.1002/humu.9403. PMID: 16470551
Moreno Alvarez MJ, Lázaro MA, Espada G, Barceló HA, Maldonado Cocco A
Clin Rheumatol 1996 Jul;15(4):389-93. doi: 10.1007/BF02230364. PMID: 8853175

Clinical prediction guides

Spinnato P, Colangeli M, Pedrini E, Parmeggiani A, Papalexis N, Crombé A, Gambarotti M, Bazzocchi A
Skeletal Radiol 2024 Jul;53(7):1437-1441. Epub 2023 Nov 28 doi: 10.1007/s00256-023-04529-8. PMID: 38015230
Gnoli M, Staals EL, Campanacci L, Bedeschi MF, Faletra F, Gallone S, Gaudio A, Mattina T, Gurrieri F, Percesepe A, Neri I, Virdi A, Tremosini M, Milanesi A, Brizola E, Pedrini E, Sangiorgi L
Calcif Tissue Int 2019 Aug;105(2):215-221. Epub 2019 May 25 doi: 10.1007/s00223-019-00565-6. PMID: 31129707
Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S
BMC Med Genet 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. PMID: 20618940Free PMC Article
Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP
Clin Genet 2009 Jun;75(6):556-61. Epub 2009 May 5 doi: 10.1111/j.1399-0004.2009.01177.x. PMID: 19438932
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR
Hum Mutat 2006 Mar;27(3):290. doi: 10.1002/humu.9403. PMID: 16470551

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