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Mesomelic dysplasia

MedGen UID:
593147
•Concept ID:
C0410536
•
Disease or Syndrome
Synonyms: Mesomelic dwarf; Mesomelic Dysplasia; mesomelic dysplasia; mesomelic dysplasias
SNOMED CT: Mesomelic dysplasia (205473008)
 
Monarch Initiative: MONDO:0023599

Definition

Mesomelic dysplasia is shortening of the middle or intermediate portion of the limb. In the upper limb this is relative shortening of the radius and ulna, in the lower limb the tibia and fibula. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelic dysplasia

Professional guidelines

PubMed

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article
Prenatal sonographic diagnosis of focal musculoskeletal anomalies.
Ryu JK, Cho JY, Choi JS
Korean J Radiol 2003 Oct-Dec;4(4):243-51. doi: 10.3348/kjr.2003.4.4.243. PMID: 14726642Free PMC Article

Recent clinical studies

Etiology

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M
Am J Med Genet A 2022 Jun;188(6):1890-1895. Epub 2022 Mar 6 doi: 10.1002/ajmg.a.62713. PMID: 35253374
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):358-365. Epub 2020 Apr 16 doi: 10.4274/jcrpe.galenos.2020.2019.0001. PMID: 32295321Free PMC Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE
PLoS One 2014;9(1):e83104. Epub 2014 Jan 8 doi: 10.1371/journal.pone.0083104. PMID: 24421874Free PMC Article
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.
Siwicka KA, Kitoh H, Nishiyama M, Ishiguro N
J Pediatr Orthop B 2008 Sep;17(5):271-6. doi: 10.1097/BPB.0b013e32830cc3c8. PMID: 19471182

Diagnosis

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.
Spurna Z, Capkova P, Srovnal J, Duchoslavova J, Punova L, Aleksijevic D, Vrtel R
Gene 2022 Apr 15;818:146238. Epub 2022 Jan 22 doi: 10.1016/j.gene.2022.146238. PMID: 35074420
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Langer's mesomelic dysplasia: a case report.
Aggarwal V, Aggarwal N, Venkat B
J Pediatr Orthop B 2014 Mar;23(2):200-2. doi: 10.1097/BPB.0b013e3283642242. PMID: 23863349
Imaging of SHOX-associated anomalies.
Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R
Semin Musculoskelet Radiol 2009 Sep;13(3):236-54. Epub 2009 Sep 1 doi: 10.1055/s-0029-1237691. PMID: 19724992
Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K
Am J Med Genet 1990 Sep;37(1):10-4. doi: 10.1002/ajmg.1320370104. PMID: 2240023

Therapy

Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.
Iughetti L, Madeo S, Predieri B
J Endocrinol Invest 2010 Jun;33(6 Suppl):34-8. PMID: 21057184
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. PMID: 19850687

Prognosis

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M
Am J Med Genet A 2022 Jun;188(6):1890-1895. Epub 2022 Mar 6 doi: 10.1002/ajmg.a.62713. PMID: 35253374
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.
Siwicka KA, Kitoh H, Nishiyama M, Ishiguro N
J Pediatr Orthop B 2008 Sep;17(5):271-6. doi: 10.1097/BPB.0b013e32830cc3c8. PMID: 19471182
Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S
Am J Med Genet 2002 May 1;109(3):206-10. doi: 10.1002/ajmg.10283. PMID: 11977180
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.
Kantaputra PN, Gorlin RJ, Langer LO Jr
Am J Med Genet 1992 Dec 1;44(6):730-7. doi: 10.1002/ajmg.1320440606. PMID: 1481840

Clinical prediction guides

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M
Am J Med Genet A 2022 Jun;188(6):1890-1895. Epub 2022 Mar 6 doi: 10.1002/ajmg.a.62713. PMID: 35253374
Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan.
Whitmore KM, Buzon MR
Int J Paleopathol 2019 Sep;26:135-144. Epub 2019 Aug 1 doi: 10.1016/j.ijpp.2019.07.006. PMID: 31377579
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE
Eur J Hum Genet 2011 Dec;19(12):1218-25. Epub 2011 Jun 29 doi: 10.1038/ejhg.2011.128. PMID: 21712857Free PMC Article
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. PMID: 19850687
SHOX: growth, Léri-Weill and Turner syndromes.
Blaschke RJ, Rappold GA
Trends Endocrinol Metab 2000 Aug;11(6):227-30. doi: 10.1016/s1043-2760(00)00262-9. PMID: 10878753

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