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Abnormality of limbs

MedGen UID:
536898
•Concept ID:
C0239337
•
Anatomical Abnormality
Synonyms: Limb abnormalities; Limb anomalies; Limb deformities
SNOMED CT: Deformity of limb (445144002)
 
HPO: HP:0040064

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of limbs

Conditions with this feature

Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
•Concept ID:
C4225317
•
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
See: Condition Record
Acrofacial dysostosis Cincinnati type

Professional guidelines

PubMed

Update in the management of lipedema.
Forner-Cordero I, Forner-Cordero A, Szolnoky G
Int Angiol 2021 Aug;40(4):345-357. Epub 2021 Apr 19 doi: 10.23736/S0392-9590.21.04604-6. PMID: 33870676
The Interdisciplinary Management of Foot Drop.
Carolus AE, Becker M, Cuny J, Smektala R, Schmieder K, Brenke C
Dtsch Arztebl Int 2019 May 17;116(20):347-354. doi: 10.3238/arztebl.2019.0347. PMID: 31288916Free PMC Article
Flatfeet: Biomechanical implications, assessment and management.
Kodithuwakku Arachchige SNK, Chander H, Knight A
Foot (Edinb) 2019 Mar;38:81-85. Epub 2019 Feb 11 doi: 10.1016/j.foot.2019.02.004. PMID: 30844660

Recent clinical studies

Etiology

Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
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

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
Management of pediatric foot deformities: an imaging review.
Winfeld MJ, Winfeld BE
Pediatr Radiol 2019 Nov;49(12):1678-1690. Epub 2019 Nov 4 doi: 10.1007/s00247-019-04503-4. PMID: 31686173
Surgical Treatment of Macrodactyly.
Gluck JS, Ezaki M
J Hand Surg Am 2015 Jul;40(7):1461-8. Epub 2015 Jun 3 doi: 10.1016/j.jhsa.2015.04.017. PMID: 26050204
Congenital lesser toe abnormalities.
Lee HS, Lee WC
Foot Ankle Clin 2011 Dec;16(4):659-78. doi: 10.1016/j.fcl.2011.08.011. PMID: 22118236
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

A comprehensive exercise program improves foot alignment in people with flexible flat foot: a randomised trial.
Brijwasi T, Borkar P
J Physiother 2023 Jan;69(1):42-46. Epub 2022 Dec 14 doi: 10.1016/j.jphys.2022.11.011. PMID: 36526555
Congenital musculoskeletal anomalies - key radiographic findings.
Gill KG
Pediatr Radiol 2022 Apr;52(4):777-785. Epub 2021 Nov 3 doi: 10.1007/s00247-021-05200-x. PMID: 34731287
Evidence for foot orthoses for adults with flatfoot: a systematic review.
Herchenröder M, Wilfling D, Steinhäuser J
J Foot Ankle Res 2021 Nov 29;14(1):57. doi: 10.1186/s13047-021-00499-z. PMID: 34844639Free PMC Article
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

Hanhart syndrome.
Dogan DG, Dogan M, Aslan M, Menekse E, Yakinci C
Genet Couns 2010;21(4):359-62. PMID: 21290964
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
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
Marfan's syndrome: a review.
Hirst AE Jr, Gore I
Prog Cardiovasc Dis 1973 Sep-Oct;16(2):187-98. doi: 10.1016/s0033-0620(73)80013-1. PMID: 4592844

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
Classifications in Brief: Johnson and Strom Classification of Adult-acquired Flatfoot Deformity.
Abousayed MM, Tartaglione JP, Rosenbaum AJ, Dipreta JA
Clin Orthop Relat Res 2016 Feb;474(2):588-93. doi: 10.1007/s11999-015-4581-6. PMID: 26472584Free 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
Ulnar ray deficiency.
Schmidt CC, Neufeld SK
Hand Clin 1998 Feb;14(1):65-76. PMID: 9526157
Torsional deformity.
Staheli LT
Pediatr Clin North Am 1986 Dec;33(6):1373-83. doi: 10.1016/s0031-3955(16)36148-x. PMID: 3786004

Recent systematic reviews

The effects of short foot exercises to treat flat foot deformity: A systematic review.
Hara S, Kitano M, Kudo S
J Back Musculoskelet Rehabil 2023;36(1):21-33. doi: 10.3233/BMR-210374. PMID: 35871320
Risk Factors of Flatfoot in Children: A Systematic Review and Meta-Analysis.
Xu L, Gu H, Zhang Y, Sun T, Yu J
Int J Environ Res Public Health 2022 Jul 6;19(14) doi: 10.3390/ijerph19148247. PMID: 35886097Free PMC Article
Evidence for foot orthoses for adults with flatfoot: a systematic review.
Herchenröder M, Wilfling D, Steinhäuser J
J Foot Ankle Res 2021 Nov 29;14(1):57. doi: 10.1186/s13047-021-00499-z. PMID: 34844639Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Clinical risk factors for Achilles tendinopathy: a systematic review.
van der Vlist AC, Breda SJ, Oei EHG, Verhaar JAN, de Vos RJ
Br J Sports Med 2019 Nov;53(21):1352-1361. Epub 2019 Feb 4 doi: 10.1136/bjsports-2018-099991. PMID: 30718234Free PMC Article

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