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Abnormal hand epiphysis morphology

MedGen UID:
870653
•Concept ID:
C4025107
•
Anatomical Abnormality
Synonyms: Abnormality of the end part of the hand bone; Abnormality of the end part of the hand bones; Abnormality of the epiphyses of the fingers; Abnormality of the epiphyses of the hand; Abnormality of the epiphyses of the phalanges of the hand
 
HPO: HP:0005924

Definition

Any abnormality of the epiphyses of the phalanges or metacarpal bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal hand epiphysis morphology

Professional guidelines

PubMed

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
Blask AR, Rubio EI, Chapman KA, Lawrence AK, Bulas DI
Pediatr Radiol 2018 Jul;48(7):979-991. Epub 2018 Mar 23 doi: 10.1007/s00247-018-4098-8. PMID: 29572747Free PMC Article
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS
Am J Med Genet A 2011 Nov;155A(11):2669-80. Epub 2011 Sep 30 doi: 10.1002/ajmg.a.34246. PMID: 21965141
Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly.
Yucel A, Kuru I, Bozan ME, Acar M, Solak M
Skeletal Radiol 2005 Aug;34(8):468-76. Epub 2005 Jun 10 doi: 10.1007/s00256-005-0928-5. PMID: 15947976

Recent clinical studies

Etiology

Radiographic features and subtypes of congenital thumb duplication type C3 according to Wu et al. and their potential implications for surgical management: new classification and preliminary results.
Wu J, Hong K, Zhao H, Liao S, Chu J, Xu C, Zhu Y, Gong M, Zhao X, Zhu M, Li J, Li Y, Liu Y, Canavese F, Xu H
BMC Musculoskelet Disord 2024 Oct 11;25(1):802. doi: 10.1186/s12891-024-07916-x. PMID: 39394581Free PMC Article
Modified Radiographic Classification System for Congenital Thumb Duplication: An Analysis of 2,300 Thumbs in 2,108 Children.
Wu J, Shi W, Lin X, Li J, Hong K, Liu Y, Li Y, Canavese F, Xu H
J Hand Surg Am 2024 Mar;49(3):275.e1-275.e8. Epub 2022 Aug 5 doi: 10.1016/j.jhsa.2022.06.001. PMID: 35940999
Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
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
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Diagnosis

Trichorhinophalangeal syndrome.
Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
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
Craniofacial conodysplasia.
Beals RK, Piatt JH, Zonana J
J Pediatr Orthop 1995 Sep-Oct;15(5):633-6. doi: 10.1097/01241398-199509000-00016. PMID: 7593576

Therapy

Hemi-Percutaneous Epiphysiodesis Using Transphyseal Screws at Lateral Proximal Tibias After Epiphyseal Fusion of Distal Phalanges in the Hand Results in Undercorrection of Genu Varum.
Ko KR, Shim JW, Shim JS, Kim DS, Lee S
Medicina (Kaunas) 2024 Nov 5;60(11) doi: 10.3390/medicina60111818. PMID: 39597003Free PMC Article
Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.
Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366Free PMC Article
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
Percutaneous distraction lengthening in brachymetacarpia.
Volpi AD, Fragomen AT
Orthopedics 2011 Aug 8;34(8):e424-7. doi: 10.3928/01477447-20110627-29. PMID: 21815589
Very distal radial osteotomy for Madelung's deformity.
McCarroll HR Jr, James MA
Tech Hand Up Extrem Surg 2010 Jun;14(2):85-93. doi: 10.1097/BTH.0b013e3181dba5fe. PMID: 20526161

Prognosis

Hemi-Percutaneous Epiphysiodesis Using Transphyseal Screws at Lateral Proximal Tibias After Epiphyseal Fusion of Distal Phalanges in the Hand Results in Undercorrection of Genu Varum.
Ko KR, Shim JW, Shim JS, Kim DS, Lee S
Medicina (Kaunas) 2024 Nov 5;60(11) doi: 10.3390/medicina60111818. PMID: 39597003Free PMC Article
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M
Eur J Med Genet 2024 Jun;69:104937. Epub 2024 Apr 2 doi: 10.1016/j.ejmg.2024.104937. PMID: 38574886
Correction of Clinodactyly by Early Physiolysis: 6-Year Results.
Medina JA, Lorea P, Elliot D, Foucher G
J Hand Surg Am 2016 Jun;41(6):e123-7. Epub 2016 Mar 10 doi: 10.1016/j.jhsa.2016.02.006. PMID: 26972556
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
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Modified Bilhaut-Cloquet procedure for Wassel type III-IV polydactyly.
Guo X, Wei Y, Wang F, Zhou X, Zhao S
J Orthop Surg Res 2024 Jan 16;19(1):71. doi: 10.1186/s13018-024-04553-x. PMID: 38229071Free PMC Article
Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.
Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366Free PMC Article
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
The fate of hips that are conservatively treated in multiple epiphyseal dysplasia.
Kim SJ, Ramanathan AK, Jeon YS, Song HR
J Pediatr Orthop B 2017 Nov;26(6):526-531. doi: 10.1097/BPB.0000000000000368. PMID: 27398645
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
The prevalence of Os acromiale: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 May;27(4):610-21. Epub 2013 Dec 2 doi: 10.1002/ca.22343. PMID: 24302513

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