U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Multiple epiphyseal dysplasia and pseudoachondroplasia

MedGen UID:
1842169
Concept ID:
C5681609
Disease or Syndrome
Orphanet: ORPHA93429

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple epiphyseal dysplasia and pseudoachondroplasia

Professional guidelines

Recent clinical studies

Etiology

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
El-Lababidi N, Zikánová M, Baxová A, Nosková L, Leiská A, Lambert L, Honzík T, Zeman J
Prague Med Rep 2020;121(3):153-162. doi: 10.14712/23362936.2020.14. PMID: 33030144
Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD
Eur J Hum Genet 2005 May;13(5):547-55. doi: 10.1038/sj.ejhg.5201374. PMID: 15756302Free PMC Article
Tolo VT
Instr Course Lect 1990;39:399-405. PMID: 2186130
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Diagnosis

Jacob P, Bhavani GSL, Shah H, Galada C, Nampoothiri S, Kamath N, Phadke SR, Muranjan M, Datar CA, Shukla A, Girisha KM
Am J Med Genet A 2022 Mar;188(3):751-759. Epub 2021 Nov 9 doi: 10.1002/ajmg.a.62566. PMID: 34750995
Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD
Eur J Hum Genet 2005 May;13(5):547-55. doi: 10.1038/sj.ejhg.5201374. PMID: 15756302Free PMC Article
Briggs MD, Chapman KL
Hum Mutat 2002 May;19(5):465-78. doi: 10.1002/humu.10066. PMID: 11968079
Unger S, Hecht JT
Am J Med Genet 2001 Winter;106(4):244-50. PMID: 11891674
Tolo VT
Instr Course Lect 1990;39:399-405. PMID: 2186130

Therapy

Guo BB, Jin JY, Yuan ZZ, Zeng L, Xiang R
Biomed Res Int 2021;2021:6678531. Epub 2021 Mar 8 doi: 10.1155/2021/6678531. PMID: 33748277Free PMC Article
Raggio CL, Yonko EA, Khan SI, Carter EM, Citron KP, Bostrom MPG, Figgie MP
J Arthroplasty 2020 Aug;35(8):1993-2001. Epub 2020 Apr 9 doi: 10.1016/j.arth.2020.04.007. PMID: 32386881
Pesenti S, Iobst CA, Launay F
Orthop Traumatol Surg Res 2017 Sep;103(5):761-764. Epub 2017 Apr 17 doi: 10.1016/j.otsr.2017.03.015. PMID: 28428035
Wilczynska M, Ching T
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4667. PMID: 22675014Free PMC Article
Kanazawa H, Tanaka H, Inoue M, Yamanaka Y, Namba N, Seino Y
J Bone Miner Metab 2003;21(5):307-10. doi: 10.1007/s00774-003-0425-7. PMID: 12928832

Prognosis

Posey KL, Coustry F, Hecht JT
Matrix Biol 2018 Oct;71-72:161-173. Epub 2018 Mar 9 doi: 10.1016/j.matbio.2018.02.023. PMID: 29530484Free PMC Article
Briggs MD, Brock J, Ramsden SC, Bell PA
Eur J Hum Genet 2014 Nov;22(11):1278-82. Epub 2014 Mar 5 doi: 10.1038/ejhg.2014.30. PMID: 24595329Free PMC Article
Posey KL, Hecht JT
Curr Drug Targets 2008 Oct;9(10):869-77. doi: 10.2174/138945008785909293. PMID: 18855621
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Clinical prediction guides

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
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
Posey KL, Hecht JT
Curr Drug Targets 2008 Oct;9(10):869-77. doi: 10.2174/138945008785909293. PMID: 18855621
Vatanavicharn N, Lachman RS, Rimoin DL
Am J Med Genet A 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313. PMID: 18546327
Mabuchi A, Momohara S, Ohashi H, Takatori Y, Haga N, Nishimura G, Ikegawa S
Am J Med Genet A 2004 Aug 15;129A(1):35-8. doi: 10.1002/ajmg.a.30164. PMID: 15266613

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...