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Congenital Hand and Foot Deformity

MedGen UID:
823772
•Concept ID:
C3831024
•
Congenital Abnormality

Definition

A malformation in the hand or foot that is present at birth. Representative examples include syndactyly, polydactyly, brachydactyly, and thumb hypoplasia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Hand and Foot Deformity

Professional guidelines

PubMed

Prenatal diagnosis of congenital upper limb differences: a current concept review.
Alrabai HM, Farr A, Bettelheim D, Weber M, Farr S
J Matern Fetal Neonatal Med 2017 Nov;30(21):2557-2563. Epub 2016 Nov 22 doi: 10.1080/14767058.2016.1256989. PMID: 27809626
Split-hand/foot malformation - molecular cause and implications in genetic counseling.
Sowińska-Seidler A, Socha M, Jamsheer A
J Appl Genet 2014 Feb;55(1):105-15. Epub 2013 Oct 27 doi: 10.1007/s13353-013-0178-5. PMID: 24163146Free PMC Article
Management of knee deformities in children with arthrogryposis.
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688

Recent clinical studies

Etiology

Congenital difference of the hand and foot: Pediatric macrodactyly.
Shen XF, Gasteratos K, Spyropoulou GA, Yin F, Rui YJ
J Plast Reconstr Aesthet Surg 2022 Nov;75(11):4054-4062. Epub 2022 Jul 27 doi: 10.1016/j.bjps.2022.06.059. PMID: 36175329
Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).
Guero S, Holder-Espinasse M
J Hand Surg Eur Vol 2019 Jan;44(1):80-87. Epub 2018 Oct 31 doi: 10.1177/1753193418807375. PMID: 30380990
Preaxial polydactyly of the foot.
Burger EB, Baas M, Hovius SER, Hoogeboom AJM, van Nieuwenhoven CA
Acta Orthop 2018 Feb;89(1):113-118. Epub 2017 Sep 26 doi: 10.1080/17453674.2017.1383097. PMID: 28946786Free PMC Article
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
Brachydactyly.
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Diagnosis

Congenital difference of the hand and foot: Pediatric macrodactyly.
Shen XF, Gasteratos K, Spyropoulou GA, Yin F, Rui YJ
J Plast Reconstr Aesthet Surg 2022 Nov;75(11):4054-4062. Epub 2022 Jul 27 doi: 10.1016/j.bjps.2022.06.059. PMID: 36175329
CLOVES syndrome.
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
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
Brachydactyly.
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Triphalangeal thumb.
Qazi Q, Kassner EG
J Med Genet 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. PMID: 3050097Free PMC Article

Therapy

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
The teratogenic effects of thalidomide on limbs.
Vargesson N
J Hand Surg Eur Vol 2019 Jan;44(1):88-95. Epub 2018 Oct 18 doi: 10.1177/1753193418805249. PMID: 30335598
Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide.
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.
Miedzybrodzka Z
J Anat 2003 Jan;202(1):37-42. doi: 10.1046/j.1469-7580.2003.00147.x. PMID: 12587918Free PMC Article
Congenital deformities.
Paterson DC
Can Med Assoc J 1969 Aug 9;101(3):175-6. PMID: 5806892Free 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
CLOVES syndrome.
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
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
Brachydactyly.
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Adams-Oliver syndrome revisited.
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437

Clinical prediction guides

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
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
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article
Preaxial polydactyly of the foot.
Burger EB, Baas M, Hovius SER, Hoogeboom AJM, van Nieuwenhoven CA
Acta Orthop 2018 Feb;89(1):113-118. Epub 2017 Sep 26 doi: 10.1080/17453674.2017.1383097. PMID: 28946786Free PMC Article
SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
Am J Hum Genet 2011 Jan 7;88(1):30-41. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.012. PMID: 21194678Free PMC Article

Recent systematic reviews

The prevalence of the extensor indicis tendon and its variants: a systematic review and meta-analysis.
Yammine K
Surg Radiol Anat 2015 Apr;37(3):247-54. Epub 2014 Aug 6 doi: 10.1007/s00276-014-1352-0. PMID: 25096501
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 the extensor digitorum communis tendon and its insertion variants: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 Nov;27(8):1284-90. Epub 2014 Jun 23 doi: 10.1002/ca.22429. PMID: 24953717
The prevalence of the sesamoid bones of the hand: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 Nov;27(8):1291-303. Epub 2014 Feb 25 doi: 10.1002/ca.22378. PMID: 24615762
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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