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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

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
The windblown hand and its surgical management.
Neser C, Graewe FR, Carter SL
J Plast Surg Hand Surg 2016 Jun;50(3):142-5. Epub 2016 Feb 16 doi: 10.3109/2000656X.2015.1137922. PMID: 26881852
Treatment of congenital differences of the upper extremity: therapist's commentary.
Fuller M
J Hand Ther 1999 Apr-Jun;12(2):174-7. doi: 10.1016/s0894-1130(99)80021-0. PMID: 10365710

Recent clinical studies

Etiology

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
The windblown hand and its surgical management.
Neser C, Graewe FR, Carter SL
J Plast Surg Hand Surg 2016 Jun;50(3):142-5. Epub 2016 Feb 16 doi: 10.3109/2000656X.2015.1137922. PMID: 26881852
Myhre syndrome.
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
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Bilateral clinical anophthalmos.
Young A, O'Keefe M
Acta Ophthalmol Scand 1997 Jun;75(3):308-10. doi: 10.1111/j.1600-0420.1997.tb00781.x. PMID: 9253982

Diagnosis

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Sathiyaseelan SL, Krishna K, Agarwal D, Oswal JS
BMJ Case Rep 2024 Jul 1;17(7) doi: 10.1136/bcr-2024-260146. PMID: 38955384
Hypothesis: Symbrachydactyly.
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
Hand and wrist imaging.
Klauser AS
Semin Musculoskelet Radiol 2012 Apr;16(2):69. Epub 2012 May 30 doi: 10.1055/s-0032-1311758. PMID: 22648422
Congenital hand anomalies and reconstruction.
Smith GD
Br J Hosp Med (Lond) 2012 Apr;73(4):203-9. doi: 10.12968/hmed.2012.73.4.203. PMID: 22585196
Upper-extremity congenital anomalies.
Kozin SH
J Bone Joint Surg Am 2003 Aug;85(8):1564-76. doi: 10.2106/00004623-200308000-00021. PMID: 12925640

Therapy

Femoral stem modularity.
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
Thalidomide and neurotrophism.
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
Management of complications of congenital hand disorders.
Comer GC, Ladd AL
Hand Clin 2015 May;31(2):361-75. doi: 10.1016/j.hcl.2015.01.011. PMID: 25934210
Upper limb lengthening.
Damsin JP, Ghanem I
Hand Clin 2000 Nov;16(4):685-701. PMID: 11117057
Pollicization for congenital deformities of the hand.
Harrison SH
Proc R Soc Med 1973 Jul;66(7):634-7. PMID: 4354903Free PMC Article

Prognosis

Congenital Tibial Deficiency.
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
Congenital hand anomalies and reconstruction.
Smith GD
Br J Hosp Med (Lond) 2012 Apr;73(4):203-9. doi: 10.12968/hmed.2012.73.4.203. PMID: 22585196
Yunis-Varon syndrome.
Bhatia S, Holla RG
Indian Pediatr 2005 Apr;42(4):373-5. PMID: 15876600
Congenital malformations of the hand and forearm.
Buck-Gramcko D
Chir Main 2002 Mar;21(2):70-101. doi: 10.1016/s1297-3203(02)00103-8. PMID: 11980346
Bilateral clinical anophthalmos.
Young A, O'Keefe M
Acta Ophthalmol Scand 1997 Jun;75(3):308-10. doi: 10.1111/j.1600-0420.1997.tb00781.x. PMID: 9253982

Clinical prediction guides

Appearance of congenital hand anomalies.
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
Congenital Tibial Deficiency.
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
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
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
Thalidomide and neurotrophism.
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
Ulnar ray deficiency.
Schmidt CC, Neufeld SK
Hand Clin 1998 Feb;14(1):65-76. PMID: 9526157

Recent systematic reviews

Surgical treatment of symmastia: A systematic review of techniques, outcomes and complications.
Guillier D, Sapino G, Watfa W, Raffoul W, di Summa PG
J Plast Reconstr Aesthet Surg 2021 Mar;74(3):449-462. Epub 2020 Sep 20 doi: 10.1016/j.bjps.2020.08.138. PMID: 33051173
Syndromes with gingival fibromatosis: A systematic review.
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
Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.
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
The sesamoids of the feet in humans: a systematic review and meta-analysis.
Yammine K
Anat Sci Int 2015 Jun;90(3):144-60. Epub 2014 May 7 doi: 10.1007/s12565-014-0239-9. PMID: 24801385
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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