Multiple Epiphyseal Dysplasia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia

Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.

genetic conditions

References

Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC,Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. Recessivemultiple epiphyseal dysplasia (rMED): phenotype delineation in eighteenhomozygotes for DTDST mutation R279W. J Med Genet. 2003 Jan;40(1):65-71.
Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Multiple EpiphysealDysplasia, Recessive. 2002 Aug 29 [updated 2014 Jan 23]. In: Adam MP, ArdingerHH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1306/
Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia:mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. Review.
Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, AutosomalDominant. 2003 Jan 8 [updated 2019 Apr 25]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1123/
Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA,Briggs MD. Type IX collagen gene mutations can result in multiple epiphysealdysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240.
Lachman RS, Krakow D, Cohn DH, Rimoin DL. MED, COMP, multilayered and NEIN: anoverview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005 Feb;35(2):116-23.
Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfatetransporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review,associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82.
Seo SG, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Park MS, Oh CW, Jeong C,Song KS, Kim OH, Park SS, Choi IH, Cho TJ. Comparison of orthopaedicmanifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMPmutations: a case control study. BMC Musculoskelet Disord. 2014 Mar 15;15:84.doi: 10.1186/1471-2474-15-84.
Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, KunzeJ. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. 1999Aug;36(8):621-4.
Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: Newetiologic developments. Am J Med Genet. 2001 Winter;106(4):244-50. Review.

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