U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Epiphyseal dysplasia, multiple, 1, severe

MedGen UID:
865097
•Concept ID:
C4016660
•
Finding
Synonym: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
 
OMIM®: 600310

Professional guidelines

PubMed

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS
Genet Med 2018 Nov;20(11):1430-1437. Epub 2018 Mar 29 doi: 10.1038/gim.2018.30. PMID: 29595812

Recent clinical studies

Etiology

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Aug 24;13(9) doi: 10.3390/genes13091512. PMID: 36140680Free PMC Article
Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Briggs MD, Bell PA, Pirog KA
Int J Mol Med 2015 Jun;35(6):1483-92. Epub 2015 Mar 30 doi: 10.3892/ijmm.2015.2158. PMID: 25824717Free PMC Article
Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Diagnosis

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Aug 24;13(9) doi: 10.3390/genes13091512. PMID: 36140680Free PMC Article
A new family with epiphyseal chondrodysplasia type Miura.
Kenis V, Melchenko E, Mazunin I, Pekkinen M, Mäkitie O
Am J Med Genet A 2021 Jan;185(1):112-118. Epub 2020 Oct 19 doi: 10.1002/ajmg.a.61923. PMID: 33073519
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood.
Li LY, Zhao Q, Ji SJ, Zhang LJ, Li QW
Orthopedics 2011 May 18;34(5):352. doi: 10.3928/01477447-20110317-03. PMID: 21598888
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027
Multiple epiphyseal dysplasia in children: beware of overtreatment!
Bajuifer S, Letts M
Can J Surg 2005 Apr;48(2):106-9. PMID: 15887789Free PMC Article

Therapy

Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?
Nakamura T, Wada A, Yamaguchi R, Iwamoto M, Takamura K, Yanagida H, Yamaguchi T, Ishikawa C
Clin Orthop Relat Res 2023 Apr 1;481(4):808-819. Epub 2022 Nov 6 doi: 10.1097/CORR.0000000000002450. PMID: 36374570Free PMC Article
Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650

Prognosis

Guided Growth Improves Coxa Valga and Hip Subluxation in Children With Hereditary Multiple Exostoses.
Hung TY, Wu KW, Lee CC, Lin SC, Kuo KN, Wang TM
J Pediatr Orthop 2023 Jan 1;43(1):e67-e73. Epub 2022 Nov 2 doi: 10.1097/BPO.0000000000002296. PMID: 36509457
Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?
Nakamura T, Wada A, Yamaguchi R, Iwamoto M, Takamura K, Yanagida H, Yamaguchi T, Ishikawa C
Clin Orthop Relat Res 2023 Apr 1;481(4):808-819. Epub 2022 Nov 6 doi: 10.1097/CORR.0000000000002450. PMID: 36374570Free PMC Article
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
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
BMC Musculoskelet Disord 2014 Mar 15;15:84. doi: 10.1186/1471-2474-15-84. PMID: 24629099Free PMC Article
Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.
Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
J Pediatr Orthop 2008 Sep;28(6):599-606. doi: 10.1097/BPO.0b013e3181831ec8. PMID: 18724194
Multiple epiphyseal dysplasia in children: beware of overtreatment!
Bajuifer S, Letts M
Can J Surg 2005 Apr;48(2):106-9. PMID: 15887789Free PMC Article

Clinical prediction guides

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Aug 24;13(9) doi: 10.3390/genes13091512. PMID: 36140680Free PMC Article
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Liang H, Hou Y, Pang Q, Jiang Y, Wang O, Li M, Xing X, Zhu H, Xia W
Calcif Tissue Int 2022 Mar;110(3):313-323. Epub 2021 Oct 28 doi: 10.1007/s00223-021-00920-6. PMID: 34709441
Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V
Eur J Hum Genet 2018 Nov;26(11):1611-1622. Epub 2018 Jul 13 doi: 10.1038/s41431-018-0135-1. PMID: 30006632Free PMC Article
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.
Tariq M, Khan TN, Lundin L, Jameel M, Lönnerholm T, Baig SM, Dahl N, Klar J
Clin Genet 2018 Jan;93(1):182-186. Epub 2017 Nov 21 doi: 10.1111/cge.13091. PMID: 28685811

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...