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MIR140-related spondyloepiphyseal dysplasia

MedGen UID:
1842455
•Concept ID:
C5680411
•
Disease or Syndrome
Synonyms: MIR140-related SED; Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses
 
Monarch Initiative: MONDO:0850099
Orphanet: ORPHA623695

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMIR140-related spondyloepiphyseal dysplasia

Professional guidelines

PubMed

Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I
An Pediatr (Engl Ed) 2022 Dec;97(6):423.e1-423.e11. Epub 2022 Nov 5 doi: 10.1016/j.anpede.2022.10.004. PMID: 36347803
Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT
Orphanet J Rare Dis 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. PMID: 31196103Free PMC Article

Recent clinical studies

Etiology

A primer on skeletal dysplasias.
Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY
Jpn J Radiol 2022 Mar;40(3):245-261. Epub 2021 Oct 25 doi: 10.1007/s11604-021-01206-5. PMID: 34693503Free PMC Article
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Madelung Deformity.
Kozin SH, Zlotolow DA
J Hand Surg Am 2015 Oct;40(10):2090-8. Epub 2015 Sep 1 doi: 10.1016/j.jhsa.2015.03.033. PMID: 26341718
Acrodysostosis.
Silve C, Clauser E, Linglart A
Horm Metab Res 2012 Sep;44(10):749-58. Epub 2012 Jul 19 doi: 10.1055/s-0032-1316330. PMID: 22815067
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V
Best Pract Res Clin Rheumatol 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. PMID: 18328979

Diagnosis

Osteochondrodysplasia.
Liu A, McEntee J
Pediatr Rev 2019 Aug;40(8):435-438. doi: 10.1542/pir.2017-0340. PMID: 31371639
Tracheobronchopathia osteochondroplastica.
Simmons C, Vinh D, Donovan DT, Ongkasuwan J
Laryngoscope 2016 Sep;126(9):2006-9. Epub 2015 Dec 15 doi: 10.1002/lary.25813. PMID: 26667604
Miscellaneous Bone Disorders.
Mughal MZ, Padidela R
Endocr Dev 2015;28:226-246. Epub 2015 Jun 12 doi: 10.1159/000381048. PMID: 26138845
Multiple epiphyseal dysplasia.
Anthony S, Munk R, Skakun W, Masini M
J Am Acad Orthop Surg 2015 Mar;23(3):164-72. Epub 2015 Feb 9 doi: 10.5435/JAAOS-D-13-00173. PMID: 25667404
The skeletal dysplasias.
Krakow D, Rimoin DL
Genet Med 2010 Jun;12(6):327-41. doi: 10.1097/GIM.0b013e3181daae9b. PMID: 20556869

Therapy

Fibrous dysplasia in children and its management.
Gun ZH, Arif A, Boyce AM
Curr Opin Endocrinol Diabetes Obes 2024 Feb 1;31(1):60-66. Epub 2023 Nov 27 doi: 10.1097/MED.0000000000000847. PMID: 38010041
Current Overview of Osteogenesis Imperfecta.
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T
Medicina (Kaunas) 2021 May 10;57(5) doi: 10.3390/medicina57050464. PMID: 34068551Free PMC Article
Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Fibrous dysplasia. Pathophysiology, evaluation, and treatment.
DiCaprio MR, Enneking WF
J Bone Joint Surg Am 2005 Aug;87(8):1848-64. doi: 10.2106/JBJS.D.02942. PMID: 16085630
Osteogenesis imperfecta.
Rauch F, Glorieux FH
Lancet 2004 Apr 24;363(9418):1377-85. doi: 10.1016/S0140-6736(04)16051-0. PMID: 15110498

Prognosis

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE
J Clin Endocrinol Metab 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127. PMID: 28655174
Madelung Deformity.
Kozin SH, Zlotolow DA
J Hand Surg Am 2015 Oct;40(10):2090-8. Epub 2015 Sep 1 doi: 10.1016/j.jhsa.2015.03.033. PMID: 26341718
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free PMC Article
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V
Best Pract Res Clin Rheumatol 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. PMID: 18328979

Clinical prediction guides

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM; Care4Rare Canada Consortium, Bober MB, Boycott KM, Murshed M
Nat Commun 2023 Nov 3;14(1):7054. doi: 10.1038/s41467-023-41651-6. PMID: 37923733Free PMC Article
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Albers-Schönberg disease.
Keng LT, Liang SK
Korean J Intern Med 2019 Sep;34(5):1167-1168. Epub 2018 May 16 doi: 10.3904/kjim.2018.026. PMID: 29761793Free PMC Article
Fibrous dysplasia.
Lietman SA, Levine MA
Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:389-96. PMID: 23858622
Acrodysostosis.
Silve C, Clauser E, Linglart A
Horm Metab Res 2012 Sep;44(10):749-58. Epub 2012 Jul 19 doi: 10.1055/s-0032-1316330. PMID: 22815067

Recent systematic reviews

Treatment and monitoring of SAPHO syndrome: a systematic review.
Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Craniofacial fibrous dysplasia: Systematic review of facial management.
Bouet B, Schlund M, De Massary M, Nicot R
J Stomatol Oral Maxillofac Surg 2023 Dec;124(6S2):101660. Epub 2023 Oct 20 doi: 10.1016/j.jormas.2023.101660. PMID: 37866506
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Murton MC, Drane ELA, Goff-Leggett DM, Shediac R, O'Hara J, Irving M, Butt TJ
Adv Ther 2023 Sep;40(9):3639-3680. Epub 2023 Jun 29 doi: 10.1007/s12325-023-02549-3. PMID: 37382866Free PMC Article
Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.
Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS
Am J Obstet Gynecol 2023 Apr;228(4):409-417.e4. Epub 2022 Oct 7 doi: 10.1016/j.ajog.2022.09.045. PMID: 36209938
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article

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