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Congenital deformities of limbs

MedGen UID:
60222
•Concept ID:
C0206762
•
Congenital Abnormality
Synonyms: Congenital Limb Deformities; Congenital Limb Deformity; Deformities, Congenital Limb; Deformity, Congenital Limb; Limb Deformities, Congenital; Limb Deformity, Congenital
SNOMED CT: Congenital anomaly of limb (60475009); Congenital deformity of limb (60475009); Congenital abnormality of the limb (60475009)
 
Monarch Initiative: MONDO:0017427
Orphanet: ORPHA294944

Definition

Congenital structural deformities of the upper and lower extremities collectively or unspecified. [from MeSH]

Professional guidelines

PubMed

Management of acute lesser toe pain.
Ray J, Andrews NA, Dib A, Harrelson WM, Khurana A, Singh MS, Shah A
Postgrad Med 2021 Apr;133(3):320-329. Epub 2021 Jan 18 doi: 10.1080/00325481.2021.1873581. PMID: 33406375
Clinical features and management of superficial fibromatoses.
Kelenjian S, Mattjie RA, Franz R, Biedermann T, Brockow K
J Dtsch Dermatol Ges 2019 Apr;17(4):393-397. Epub 2019 Mar 13 doi: 10.1111/ddg.13808. PMID: 30865379
Treatment of Freiberg Disease.
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030

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
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
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
Coccygeal pits.
Weprin BE, Oakes WJ
Pediatrics 2000 May;105(5):E69. doi: 10.1542/peds.105.5.e69. PMID: 10799633
Ulnar deficiency.
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Diagnosis

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
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J, Magdinier F, Fergelot P, Lacombe D
Genes (Basel) 2021 Jun 24;12(7) doi: 10.3390/genes12070968. PMID: 34202860Free PMC Article
Congenital fibular deficiency.
Hamdy RC, Makhdom AM, Saran N, Birch J
J Am Acad Orthop Surg 2014 Apr;22(4):246-55. doi: 10.5435/JAAOS-22-04-246. PMID: 24668354
Generalized skeletal abnormalities.
Watt AJ, Chung KC
Hand Clin 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. PMID: 19380065
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

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
Treatment of Freiberg Disease.
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Orthopaedic aspects of mucopolysaccharidoses.
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667

Prognosis

Treatment of congenital syndactyly.
Le Hanneur M, Cambon-Binder A, Bachy M, Fitoussi F
Hand Surg Rehabil 2020 May;39(3):143-153. Epub 2020 Mar 3 doi: 10.1016/j.hansur.2019.12.003. PMID: 32142954
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
Campomelic dysplasia.
Jain V, Sen B
J Pediatr Orthop B 2014 Sep;23(5):485-8. doi: 10.1097/BPB.0000000000000058. PMID: 24800790
Skewfoot.
Hagmann S, Dreher T, Wenz W
Foot Ankle Clin 2009 Sep;14(3):409-34. doi: 10.1016/j.fcl.2009.06.003. PMID: 19712883
Ulnar deficiency.
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Clinical prediction guides

Treatment of congenital syndactyly.
Le Hanneur M, Cambon-Binder A, Bachy M, Fitoussi F
Hand Surg Rehabil 2020 May;39(3):143-153. Epub 2020 Mar 3 doi: 10.1016/j.hansur.2019.12.003. PMID: 32142954
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
Pediatric Thumb Flexion Deformities.
Shreve M, Chu A
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):97-108. PMID: 26977555
Skewfoot.
Hagmann S, Dreher T, Wenz W
Foot Ankle Clin 2009 Sep;14(3):409-34. doi: 10.1016/j.fcl.2009.06.003. PMID: 19712883

Recent systematic reviews

Effectiveness of the Ponseti Method in the Treatment of Clubfoot: A Systematic Review.
López-Carrero E, Castillo-López JM, Medina-Alcantara M, Domínguez-Maldonado G, Garcia-Paya I, Jiménez-Cebrián AM
Int J Environ Res Public Health 2023 Feb 20;20(4) doi: 10.3390/ijerph20043714. PMID: 36834410Free PMC Article
Talectomy for arthrogrypotic foot deformities: A systematic review.
Chergui S, Al-Ali H, Marwan Y, Abu Dalu K, Dahan-Oliel N, Hamdy RC
Foot Ankle Surg 2023 Jan;29(1):15-21. Epub 2022 Oct 15 doi: 10.1016/j.fas.2022.10.002. PMID: 36266132
Nevus comedonicus syndrome: A systematic review of the literature.
Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
Surgical interventions of Freiberg's disease: A systematic review.
Alhadhoud MA, Alsiri NF, Daniels TR, Glazebrook MA
Foot Ankle Surg 2021 Aug;27(6):606-614. Epub 2020 Aug 27 doi: 10.1016/j.fas.2020.08.005. PMID: 32917526
Surgical Treatment and Outcomes of Syndactyly: A Systematic Review.
Mende K, Watson A, Stewart DA
J Hand Surg Asian Pac Vol 2020 Mar;25(1):1-12. doi: 10.1142/S2424835520300017. PMID: 32000609

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