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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

Forearm lengthening and prosthetic management in children with transverse congenital forearm deficiency.
Klein C, Ferrari V, Deroussen F, Juvet-Segarra M, Gouron R
Hand Surg Rehabil 2019 Apr;38(2):129-134. Epub 2019 Jan 11 doi: 10.1016/j.hansur.2018.12.005. PMID: 30641152
Untethering physiolysis for delta phalanx (longitudinally bracketed diaphysis) combined with free fat interposition graft.
Lee HJ, Kim PT, Jeon IH, Deslivia MF, Lee SJ, Kim HJ, Yoon JP
Hand Surg Rehabil 2017 Sep;36(4):286-289. Epub 2017 Jul 13 doi: 10.1016/j.hansur.2017.06.003. PMID: 28712787
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
Macrodystrophia lipomatosa: macrodactyly related to affected nerves, and a review of the literature.
van der Meer S, Nicolai JP, Meek MF
Handchir Mikrochir Plast Chir 2007 Dec;39(6):414-7. doi: 10.1055/s-2007-965235. PMID: 18058672
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
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
The management of congenital and acquired problems of the distal radioulnar joint in children.
Pritsch T, Moran SL
Hand Clin 2010 Nov;26(4):579-91. doi: 10.1016/j.hcl.2010.06.001. PMID: 20951907
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

Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650
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
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities.
Shapiro F, Mulhern H, Weis MA, Eyre D
Ultrastruct Pathol 2006 Sep-Oct;30(5):393-400. doi: 10.1080/01913120600967004. PMID: 17090519
Epiphyseal and non-epiphyseal anomalies of hand in protein energy malnutrition.
Faridi MM, Ansari Z, Bhargava SK
Indian Pediatr 1983 Apr;20(4):265-72. PMID: 6413406
Congenital malformations associated with the administration of oral anticoagulants during pregnancy.
Pettifor JM, Benson R
J Pediatr 1975 Mar;86(3):459-62. doi: 10.1016/s0022-3476(75)80986-3. PMID: 1113236

Prognosis

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
Hyperostotic macrodactyly and lipofibromatous hamartoma of the median nerve associated with carpal tunnel syndrome.
Nogueira A, Pena C, Martinez MJ, Sarasua JG, Madrigal B
Chir Main 1999;18(4):261-71. doi: 10.1016/s0753-9053(99)80039-8. PMID: 10855329
Hip pathology in the trichorhinophalangeal syndrome.
Dunbar JD, Sussman MD, Aiona MD
J Pediatr Orthop 1995 May-Jun;15(3):381-5. doi: 10.1097/01241398-199505000-00023. PMID: 7790499
Composite toe (phalanx and epiphysis) transfers in the reconstruction of the aphalangic hand.
Goldberg NH, Watson HK
J Hand Surg Am 1982 Sep;7(5):454-9. doi: 10.1016/s0363-5023(82)80039-7. PMID: 7130653
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia.
Fossataro F, D'Andrea L, Cennamo G
Eur J Ophthalmol 2022 Jul;32(4):NP34-NP37. Epub 2021 Feb 14 doi: 10.1177/1120672121995745. PMID: 33583233
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
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR
Am J Hum Genet 2003 Apr;72(4):1040-6. Epub 2003 Mar 11 doi: 10.1086/374318. PMID: 12632327Free PMC Article
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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