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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
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
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

Clinical prediction guides

Cutis marmorata telangiectatica congenita: a literature review.
Bui TNPT, Corap A, Bygum A
Orphanet J Rare Dis 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8. PMID: 31801575Free 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
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

Recent systematic reviews

The molecular genetics of human appendicular skeleton.
Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA
Mol Genet Genomics 2022 Sep;297(5):1195-1214. Epub 2022 Jul 30 doi: 10.1007/s00438-022-01930-1. PMID: 35907958
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

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