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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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital deformities of limbs

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of musculoskeletal system
        Congenital deformities of limbs
        Arachnodactyly
        Brachydactyly
        Brachydactyly type B
        Brachydactyly type B1
        Brachydactyly type B2
        Brachydactyly type C
        Brachydactyly type D
        Brachydactyly type E
        Brachydactyly type E1
        Brachytelomesophalangy
        Type A brachydactyly
        Brachydactyly type A1
        Brachydactyly type A4
        Short middle phalanx of the 5th finger
        Type A2 brachydactyly
        Type A5 brachydactyly
        Unilateral brachydactyly
        Congenital bowing of long bones
        Congenital deformity of lower limb
        Congenital deformity of foot
        Talipes
        Tarsal synostosis
        Congenital deformity of upper limb
        Congenital deformity of hand
        Congenital vertical talus
        Congenital vertical talus, bilateral
        Congenital vertical talus, unilateral
        Ectromelia
        Amelia
        Amelia involving the lower limbs
        Amelia involving the upper limbs
        Amelia of lower limb
        Amelia of upper limb
        Tetraamelia
        Hemimelia
        Fibular hemimelia
        Radial hemimelia
        Tibial hemimelia
        Ulnar hemimelia
        Phocomelia
        Lower limb phocomelia
        Tetraphocomelia
        Upper limb phocomelia
        Polydactyly
        Central polydactyly of fingers
        Mesoaxial foot polydactyly
        Mesoaxial hand polydactyly
        Foot polydactyly
        Ectopic accesory toe-like appendage
        Hand polydactyly
        Ectopic accessory finger-like appendage
        Mirror image polydactyly
        Mirror image foot polydactyly
        Mirror image hand polydactyly
        Pallister-Hall syndrome
        Postaxial polydactyly
        Postaxial foot polydactyly
        Postaxial hand polydactyly
        Preaxial polydactyly
        Preaxial foot polydactyly
        Preaxial hand polydactyly
        Short rib-polydactyly syndrome
        Asphyxiating thoracic dystrophy 3
        Cranioectodermal dysplasia
        Ellis-van Creveld syndrome
        Jeune thoracic dystrophy
        Joubert syndrome with Jeune asphyxiating thoracic dystrophy
        Short rib-polydactyly syndrome, Majewski type
        Short-rib thoracic dysplasia 6 with or without polydactyly
        Short-rib thoracic dysplasia 7 with or without polydactyly
        Type IV short rib polydactyly syndrome
        Proteus syndrome
        Syndactyly
        Acrocephalosyndactyly
        Acrocephalosyndactyly type I
        Carpenter syndrome
        Pfeiffer syndrome
        Saethre-Chotzen syndrome
        Cryptophthalmos syndrome
        Cutaneous syndactyly
        Cutaneous finger syndactyly
        Cutaneous syndactyly of toes
        Finger syndactyly
        1-2 finger syndactyly
        1-3 finger syndactyly
        1-4 finger syndactyly
        1-5 finger syndactyly
        2-3 finger syndactyly
        2-4 finger syndactyly
        2-5 finger syndactyly
        3-4 finger syndactyly
        3-5 finger syndactyly
        4-5 finger syndactyly
        Osseous finger syndactyly
        Non-syndromic syndactyly
        Mesoaxial synostotic syndactyly with phalangeal reduction
        Syndactyly type 1
        Syndactyly type 3
        Syndactyly type 4
        Syndactyly type 5
        Syndactyly type 6
        Syndactyly type 8
        Synpolydactyly
        Poland anomaly
        Thanatophoric dysplasia
        Thanatophoric dysplasia type 1
        Thanatophoric dysplasia, Glasgow variant
        Thanatophoric dysplasia, type 2

Follow this link to review classifications for Congenital deformities of limbs in Orphanet.

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

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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

Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents.

Silva MS, Fernandes ARC, Cardoso FN, Longo CH, Aihara AY
Radiographics 2019 May-Jun;39(3):779-794. doi: 10.1148/rg.2019180101. PMID: 31059403

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

Treatment of congenital syndactyly of the fingers.

Kvernmo HD, Haugstvedt JR
Tidsskr Nor Laegeforen 2013 Aug 20;133(15):1591-5. doi: 10.4045/tidsskr.13.0147. PMID: 23970273

Brachydactyly.

Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391 Free PMC Article

See all (1810)

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

Congenital Contracture of the Ulnar Digits and Its Differentiation From Ischemic Contracture.

Xiong G, Yongbin Gao, Zhu J, Guo W, Sun J
J Hand Surg Am 2022 Jun;47(6):579.e1-579.e9. Epub 2021 Jul 17 doi: 10.1016/j.jhsa.2021.06.008. PMID: 34281749

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: 34202860 Free 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

Brachydactyly.

Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391 Free PMC Article

See all (2477)

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: 30341712 Free 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

Compression therapy for congenital low-flow vascular malformations of the extremities: A systematic review.

Langbroek GB, Horbach SE, van der Vleuten CJ, Ubbink DT, van der Horst CM
Phlebology 2018 Feb;33(1):5-13. Epub 2016 Dec 19 doi: 10.1177/0268355516684694. PMID: 28429627

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

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Prognosis

Persistent sciatic vein.

Büyükertan M, Söztanacı US, Balcıoğlu HA
Folia Morphol (Warsz) 2022;81(4):1062-1065. Epub 2021 Sep 21 doi: 10.5603/FM.a2021.0091. PMID: 34545558

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

A multidisciplinary review of triphalangeal thumb.

Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985 Free PMC Article

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

Brachydactyly.

Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391 Free PMC Article

See all (1145)

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: 30341712 Free PMC Article

Radial Polydactyly. What's New?

Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421

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

Cleft hand.

Ogino T
Hand Clin 1990 Nov;6(4):661-71. PMID: 2176655

See all (1136)

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: 36834410 Free 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

Compression therapy for congenital low-flow vascular malformations of the extremities: A systematic review.

Langbroek GB, Horbach SE, van der Vleuten CJ, Ubbink DT, van der Horst CM
Phlebology 2018 Feb;33(1):5-13. Epub 2016 Dec 19 doi: 10.1177/0268355516684694. PMID: 28429627

See all (33)

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Congenital deformities of limbs

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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