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Osteochondrodysplasia

MedGen UID:
10495
•Concept ID:
C0029422
•
Disease or Syndrome
Synonym: Osteochondrodysplasias
SNOMED CT: Osteochondrodysplasia syndrome (105985007)
 
Monarch Initiative: MONDO:0005516

Definition

A term referring to disorders characterized by abnormalities in the development of bones and cartilage. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Osteochondrodysplasia

Professional guidelines

PubMed

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.
Berceanu C, Gheonea IA, Vlădăreanu S, Cîrstoiu MM, Vlădăreanu R, Mehedinţu C, Berceanu S, Ciortea R, Brătilă E
Med Ultrason 2017 Jan 31;19(1):66-72. doi: 10.11152/mu-922. PMID: 28180199
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.
Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, McGill J
J Paediatr Child Health 2012 May;48(5):443-9. Epub 2011 Nov 23 doi: 10.1111/j.1440-1754.2011.02255.x. PMID: 22112170

Recent clinical studies

Etiology

Natural history of Myhre syndrome.
Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V
Orphanet J Rare Dis 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. PMID: 35907855Free PMC Article
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O
Front Endocrinol (Lausanne) 2022;13:845889. Epub 2022 Mar 3 doi: 10.3389/fendo.2022.845889. PMID: 35311234Free PMC Article
Changes in skeletal dysplasia nosology.
Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, Jurcă AD
Rom J Morphol Embryol 2021 Jul-Sep;62(3):689-696. doi: 10.47162/RJME.62.3.05. PMID: 35263396Free PMC Article
A review of skeletal dysplasia research in India.
Uttarilli A, Shah H, Shukla A, Girisha KM
J Postgrad Med 2018 Apr-Jun;64(2):98-103. doi: 10.4103/jpgm.JPGM_527_17. PMID: 29692401Free PMC Article
Shoulder arthroplasty in patients with osteo-chondrodysplasias.
Schoch B, Werthel JD, Sanchez-Sotelo J, Sperling JW, Cofield RH, Morrey M
Int Orthop 2017 Oct;41(10):2129-2134. Epub 2017 Aug 7 doi: 10.1007/s00264-017-3588-x. PMID: 28782076

Diagnosis

Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.
Darouich S, Masmoudi A
Fetal Pediatr Pathol 2022 Apr;41(2):179-197. Epub 2020 Jun 18 doi: 10.1080/15513815.2020.1775735. PMID: 32552261
Changes in skeletal dysplasia nosology.
Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, Jurcă AD
Rom J Morphol Embryol 2021 Jul-Sep;62(3):689-696. doi: 10.47162/RJME.62.3.05. PMID: 35263396Free PMC Article
Osteochondrodysplasia.
Liu A, McEntee J
Pediatr Rev 2019 Aug;40(8):435-438. doi: 10.1542/pir.2017-0340. PMID: 31371639
Opsismodysplasia.
Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM
Indian J Pediatr 2010 May;77(5):567-8. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0043-z. PMID: 20422326
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

Therapy

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Ouedraogo ZG, Janel C, Janin A, Millat G, Langlais S, Pontier B, Biard M, Lepage M, Francannet C, Laffargue F, Creveaux I
Genes (Basel) 2024 Feb 10;15(2) doi: 10.3390/genes15020225. PMID: 38397214Free PMC Article
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Tise CG, Perry JA, Anforth LE, Pavlovich MA, Backman JD, Ryan KA, Lewis JP, O'Connell JR, Yerges-Armstrong LM, Shuldiner AR
G3 (Bethesda) 2016 Sep 8;6(9):2909-18. doi: 10.1534/g3.116.032979. PMID: 27412988Free PMC Article
Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression.
Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1169-72. Epub 2008 Apr 10 doi: 10.1007/s00381-008-0602-z. PMID: 18401562
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
J Med Genet 2007 Feb;44(2):89-98. Epub 2006 Jun 26 doi: 10.1136/jmg.2006.043687. PMID: 16801345Free PMC Article
Total hip arthroplasty in patients with dwarfism.
Chiavetta JB, Parvizi J, Shaughnessy WJ, Cabanela ME
J Bone Joint Surg Am 2004 Feb;86(2):298-304. doi: 10.2106/00004623-200402000-00012. PMID: 14960674

Prognosis

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O
Front Endocrinol (Lausanne) 2022;13:845889. Epub 2022 Mar 3 doi: 10.3389/fendo.2022.845889. PMID: 35311234Free PMC Article
Changes in skeletal dysplasia nosology.
Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, Jurcă AD
Rom J Morphol Embryol 2021 Jul-Sep;62(3):689-696. doi: 10.47162/RJME.62.3.05. PMID: 35263396Free PMC Article
Shoulder arthroplasty in patients with osteo-chondrodysplasias.
Schoch B, Werthel JD, Sanchez-Sotelo J, Sperling JW, Cofield RH, Morrey M
Int Orthop 2017 Oct;41(10):2129-2134. Epub 2017 Aug 7 doi: 10.1007/s00264-017-3588-x. PMID: 28782076
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH
Am J Med Genet A 2005 Aug 30;137(2):117-24. doi: 10.1002/ajmg.a.30580. PMID: 16086394
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

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
Mäkitie RE, Toiviainen-Salo S, Kaitila I, Mäkitie O
Front Endocrinol (Lausanne) 2022;13:845889. Epub 2022 Mar 3 doi: 10.3389/fendo.2022.845889. PMID: 35311234Free PMC Article
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S, Li J, Sockell A, Kan MJ, Bava FA, Chen SC, Ávila-Arcos MC, Ji X, Smith E, Asadi NB, Lachman RS, Lam HYK, Bustamante CD, Butte AJ, Nolan GP
Genome Res 2018 Apr;28(4):423-431. Epub 2018 Mar 22 doi: 10.1101/gr.223693.117. PMID: 29567674Free PMC Article
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC
Am J Med Genet A 2017 Aug;173(8):2108-2125. Epub 2017 May 26 doi: 10.1002/ajmg.a.38279. PMID: 28548707
Opsismodysplasia.
Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM
Indian J Pediatr 2010 May;77(5):567-8. Epub 2010 Mar 19 doi: 10.1007/s12098-010-0043-z. PMID: 20422326
Growth in cartilage-hair hypoplasia.
Mäkitie O, Perheentupa J, Kaitila I
Pediatr Res 1992 Feb;31(2):176-80. doi: 10.1203/00006450-199202000-00018. PMID: 1542548

Recent systematic reviews

Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review.
Ireland P, Johnston LM
Phys Occup Ther Pediatr 2012 Feb;32(1):80-96. Epub 2011 Jul 6 doi: 10.3109/01942638.2011.593619. PMID: 21728924

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