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Congenital deformity of hand

MedGen UID:
6717
Concept ID:
C0018566
Congenital Abnormality
Synonyms: Congenital Hand Deformities; Congenital Hand Deformity; Deformities, Congenital Hand; Deformity, Congenital Hand; Hand Deformities, Congenital; Hand Deformity, Congenital
SNOMED CT: Congenital deformity of hand (1230354001)

Definition

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital deformity of hand

Professional guidelines

PubMed

Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Woodside JC, Light TR
J Hand Surg Am 2016 Jan;41(1):135-43; quiz 143. Epub 2015 Aug 6 doi: 10.1016/j.jhsa.2015.06.114. PMID: 26254946
Comer GC, Ladd AL
Hand Clin 2015 May;31(2):361-75. doi: 10.1016/j.hcl.2015.01.011. PMID: 25934210

Recent clinical studies

Etiology

Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Nietosvaara NN, Sommarhem AJ, Puhakka JM, Tan RES, Schalamon J, Nietosvaara AY
Scand J Surg 2021 Sep;110(3):434-440. Epub 2020 Feb 28 doi: 10.1177/1457496920903987. PMID: 32106765Free PMC Article
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Chu A, Chan J, Baxi O
Pediatr Clin North Am 2020 Feb;67(1):85-99. doi: 10.1016/j.pcl.2019.09.011. PMID: 31779839
Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472
Kawamura K, Chung KC
Hand Clin 2009 May;25(2):257-64. doi: 10.1016/j.hcl.2008.10.007. PMID: 19380064
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Therapy

Mertl P, Dehl M
Orthop Traumatol Surg Res 2020 Feb;106(1S):S35-S42. Epub 2019 Oct 14 doi: 10.1016/j.otsr.2019.05.019. PMID: 31624033
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Vargesson N
J Hand Surg Eur Vol 2019 Jan;44(1):88-95. Epub 2018 Oct 18 doi: 10.1177/1753193418805249. PMID: 30335598
Comer GC, Ladd AL
Hand Clin 2015 May;31(2):361-75. doi: 10.1016/j.hcl.2015.01.011. PMID: 25934210
Damsin JP, Ghanem I
Hand Clin 2000 Nov;16(4):685-701. PMID: 11117057

Prognosis

Haapala H, Heiskanen S, Syvänen J, Raitio A, Helenius L, Ahonen M, Diarbakerli E, Gerdhem P, Helenius I
J Pediatr Orthop 2023 Jul 1;43(6):e451-e457. Epub 2023 Mar 30 doi: 10.1097/BPO.0000000000002408. PMID: 36998176
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Le Goff C, Michot C, Cormier-Daire V
Clin Genet 2014 Jun;85(6):503-13. Epub 2014 Apr 2 doi: 10.1111/cge.12365. PMID: 24580733
Neylon OM, Werther GA, Sabin MA
Curr Opin Pediatr 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. PMID: 22705997
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Clinical prediction guides

Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943

Recent systematic reviews

Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC
Oral Dis 2021 May;27(4):881-893. Epub 2020 May 25 doi: 10.1111/odi.13369. PMID: 32335995
Peymani A, Johnson AR, Dowlatshahi AS, Dobbe JGG, Lin SJ, Upton J, Streekstra GJ, Strackee SD
Hand (N Y) 2019 Nov;14(6):725-734. Epub 2018 Aug 13 doi: 10.1177/1558944718793179. PMID: 30102073Free PMC Article
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Yammine K
Anat Sci Int 2015 Jun;90(3):144-60. Epub 2014 May 7 doi: 10.1007/s12565-014-0239-9. PMID: 24801385
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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