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Abnormality of the humerus

MedGen UID:
867377
Concept ID:
C4021742
Anatomical Abnormality
Synonym: Abnormality of the humeri
 
HPO: HP:0003063

Definition

An abnormality of the humerus (i.e., upper arm bone). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the humerus

Conditions with this feature

Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.

Professional guidelines

Recent clinical studies

Therapy

O'Connor FG, Leggit JC
FP Essent 2024 Sep;544:12-19. PMID: 39283673
Chu YL, Chen CK, Liu YC, Lu TW, Liaw CK
BMC Musculoskelet Disord 2020 Feb 10;21(1):92. doi: 10.1186/s12891-020-3118-7. PMID: 32041587Free PMC Article
Lee DH, Choi YS, Potter HG, Endo Y, Sivakumaran T, Lim TK, Chun TJ
Skeletal Radiol 2020 Jan;49(1):19-30. Epub 2019 Jul 18 doi: 10.1007/s00256-019-03275-0. PMID: 31321452
Malot R, Park KW, Song SH, Kwon HN, Song HR
Acta Orthop 2013 Jun;84(3):280-5. Epub 2013 Mar 19 doi: 10.3109/17453674.2013.786636. PMID: 23506166Free PMC Article
Binder H, Schurz M, Aldrian S, Fialka C, Vécsei V
Int Orthop 2011 Oct;35(10):1497-502. Epub 2011 May 24 doi: 10.1007/s00264-011-1277-8. PMID: 21607606Free PMC Article

Prognosis

Nguyen JC, Caine D
Semin Musculoskelet Radiol 2024 Aug;28(4):361-374. Epub 2024 Jul 29 doi: 10.1055/s-0044-1786151. PMID: 39074720
Arner JW, Ruzbarsky JJ, Millett PJ
Arthroscopy 2022 Apr;38(4):1035-1036. doi: 10.1016/j.arthro.2022.01.033. PMID: 35369910
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
Basha A, Amarin Z, Abu-Hassan F
Int J Gynaecol Obstet 2013 Nov;123(2):127-30. Epub 2013 Jul 30 doi: 10.1016/j.ijgo.2013.05.013. PMID: 23992623

Clinical prediction guides

Nguyen JC, Caine D
Semin Musculoskelet Radiol 2024 Aug;28(4):361-374. Epub 2024 Jul 29 doi: 10.1055/s-0044-1786151. PMID: 39074720
Sharma S, Sharma RS, Adole S, Dixit SG, Ghatak S
Ann Afr Med 2023 Oct-Dec;22(4):557-559. doi: 10.4103/aam.aam_35_22. PMID: 38358162Free PMC Article
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Recent systematic reviews

Brauer CA, Lee BM, Bae DS, Waters PM, Kocher MS
J Pediatr Orthop 2007 Mar;27(2):181-6. doi: 10.1097/bpo.0b013e3180316cf1. PMID: 17314643

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