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Abnormality of the upper limb

MedGen UID:
866555
•Concept ID:
C4020900
•
Anatomical Abnormality
Synonym: Abnormality of the arm
 
HPO: HP:0002817

Definition

An abnormality of the arm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of the upper limb

Professional guidelines

PubMed

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS
Hum Mol Genet 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133. PMID: 32592473Free PMC Article
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC
Nat Rev Genet 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. PMID: 29995837Free PMC Article

Recent clinical studies

Etiology

Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
Motor network reorganization after motor imagery training in stroke patients with moderate to severe upper limb impairment.
Wang H, Xiong X, Zhang K, Wang X, Sun C, Zhu B, Xu Y, Fan M, Tong S, Guo X, Sun L
CNS Neurosci Ther 2023 Feb;29(2):619-632. Epub 2022 Dec 27 doi: 10.1111/cns.14065. PMID: 36575865Free PMC Article
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
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
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

Amyoplasia and distal arthrogryposis.
Griffet J, Dieterich K, Bourg V, Bourgeois E
Orthop Traumatol Surg Res 2021 Feb;107(1S):102781. Epub 2020 Dec 13 doi: 10.1016/j.otsr.2020.102781. PMID: 33321243
Congenital Deformities of the Hands.
Chu A, Chan J, Baxi O
Pediatr Clin North Am 2020 Feb;67(1):85-99. doi: 10.1016/j.pcl.2019.09.011. PMID: 31779839
Vascular anomalies of the upper limb.
Mende K, Vargesson N, Sivakumar B
J Hand Surg Eur Vol 2019 Mar;44(3):233-241. Epub 2018 Oct 31 doi: 10.1177/1753193418808130. PMID: 30380989
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
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

Motor network reorganization after motor imagery training in stroke patients with moderate to severe upper limb impairment.
Wang H, Xiong X, Zhang K, Wang X, Sun C, Zhu B, Xu Y, Fan M, Tong S, Guo X, Sun L
CNS Neurosci Ther 2023 Feb;29(2):619-632. Epub 2022 Dec 27 doi: 10.1111/cns.14065. PMID: 36575865Free PMC Article
Long term effects of manual lymphatic drainage and active exercises on physical morbidities, lymphoscintigraphy parameters and lymphedema formation in patients operated due to breast cancer: A clinical trial.
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article
Fetal Valproate Syndrome.
Mutlu-Albayrak H, Bulut C, Çaksen H
Pediatr Neonatol 2017 Apr;58(2):158-164. Epub 2016 Jun 17 doi: 10.1016/j.pedneo.2016.01.009. PMID: 27422007
Pediatric limb differences and amputations.
Le JT, Scott-Wyard PR
Phys Med Rehabil Clin N Am 2015 Feb;26(1):95-108. doi: 10.1016/j.pmr.2014.09.006. PMID: 25479783
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

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
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: 30318985Free PMC Article
Prenatal diagnosis of musculoskeletal conditions.
Oetgen ME, Kelly SM, Sellier LS, Du Plessis A
J Am Acad Orthop Surg 2015 Apr;23(4):213-21. doi: 10.5435/JAAOS-D-14-00004. PMID: 25808685
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
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

Motor network reorganization after motor imagery training in stroke patients with moderate to severe upper limb impairment.
Wang H, Xiong X, Zhang K, Wang X, Sun C, Zhu B, Xu Y, Fan M, Tong S, Guo X, Sun L
CNS Neurosci Ther 2023 Feb;29(2):619-632. Epub 2022 Dec 27 doi: 10.1111/cns.14065. PMID: 36575865Free 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
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
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Pediatric Thumb Flexion Deformities.
Shreve M, Chu A
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):97-108. PMID: 26977555

Recent systematic reviews

Upper-extremity spasticity and functionality after selective dorsal rhizotomy for cerebral palsy: a systematic review.
Merckx L, Poncelet F, De Houwer H, Laumen A, Peeters L, Nuttin B, Pauwels P, Van Campenhout A, Ortibus E, De Vloo P
J Neurosurg Pediatr 2023 Dec 1;32(6):673-685. Epub 2023 Sep 15 doi: 10.3171/2023.7.PEDS22526. PMID: 37877954
Shoulder ultrasound imaging in the post-stroke population: a systematic review and meta-analysis.
Lin TY, Shen PC, Chang KV, Wu WT, Özçakar L
J Rehabil Med 2023 Aug 21;55:jrm13432. doi: 10.2340/jrm.v55.13432. PMID: 37615388Free PMC Article
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R
Ann Rheum Dis 2022 May;81(5):601-613. Epub 2022 Jan 27 doi: 10.1136/annrheumdis-2021-221814. PMID: 35086813Free PMC Article
Nonunion of the coracoid process: a systematic review.
Ogawa K, Matsumura N, Yoshida A
Arch Orthop Trauma Surg 2021 Nov;141(11):1877-1888. Epub 2020 Oct 30 doi: 10.1007/s00402-020-03657-3. PMID: 33125544
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
Giugliani R, Harmatz P, Lin SP, Scarpa M
Orphanet J Rare Dis 2020 Apr 19;15(1):97. doi: 10.1186/s13023-020-01368-x. PMID: 32306998Free PMC Article

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