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Multiple epiphyseal dysplasia and pseudoachondroplasia

MedGen UID:
833396
•Concept ID:
CN229202
•
Finding
Synonym: multiple epiphyseal dysplasia and pseudoachondroplasia
 
Monarch Initiative: MONDO:0019692
Orphanet: ORPHA93429

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple epiphyseal dysplasia and pseudoachondroplasia
Follow this link to review classifications for Multiple epiphyseal dysplasia and pseudoachondroplasia in Orphanet.

Professional guidelines

PubMed

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD, Chapman KL
Hum Mutat 2002 May;19(5):465-78. doi: 10.1002/humu.10066. PMID: 11968079

Recent clinical studies

Etiology

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
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
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
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
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. PMID: 21922596Free PMC Article
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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

Diagnosis

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
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
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD, Chapman KL
Hum Mutat 2002 May;19(5):465-78. doi: 10.1002/humu.10066. PMID: 11968079
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Unger S, Hecht JT
Am J Med Genet 2001 Winter;106(4):244-50. PMID: 11891674
Pseudoachondroplastic dysplasia.
Khungar A, Mahajan P, Gupte G, Vasundhara M, Kher A, Bharucha BA
J Postgrad Med 1993 Apr-Jun;39(2):91-3. PMID: 8169872

Therapy

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
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
Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications.
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
Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children.
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
Difficult to control asthma in the patient with pseudoachondroplasia.
Wilczynska M, Ching T
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4667. PMID: 22675014Free PMC Article
Efficacy of growth hormone therapy for patients with skeletal dysplasia.
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

Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications.
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
Cartilage oligomeric matrix protein: COMPopathies and beyond.
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
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
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
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease.
Posey KL, Hecht JT
Curr Drug Targets 2008 Oct;9(10):869-77. doi: 10.2174/138945008785909293. PMID: 18855621
Pathogenic mechanisms in osteochondrodysplasias.
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

Clinical prediction guides

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
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
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
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease.
Posey KL, Hecht JT
Curr Drug Targets 2008 Oct;9(10):869-77. doi: 10.2174/138945008785909293. PMID: 18855621
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
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

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