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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

Patient-reported Outcomes in Arthrogryposis.
Wall LB, Vuillerman C, Miller PE, Bae DS, Goldfarb CA; CoULD Study Group
J Pediatr Orthop 2020 Aug;40(7):357-360. doi: 10.1097/BPO.0000000000001527. PMID: 32040062
Classification of congenital anomalies of the hand and upper limb.
Tonkin MA
J Hand Surg Eur Vol 2017 Jun;42(5):448-456. Epub 2017 Feb 17 doi: 10.1177/1753193417690965. PMID: 28488459
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
Median and ulnar nerve anastomoses in the upper limb: A meta-analysis.
Roy J, Henry BM, PĘkala PA, Vikse J, Saganiak K, Walocha JA, Tomaszewski KA
Muscle Nerve 2016 Jun;54(1):36-47. Epub 2016 Apr 27 doi: 10.1002/mus.24993. PMID: 26599506
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
Polydactyly: A Review.
Farrugia MC, Calleja-Agius J
Neonatal Netw 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. PMID: 27194607

Therapy

A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE).
Mansour S, Baple E, Hall CM
J Hand Surg Eur Vol 2019 Jan;44(1):96-108. Epub 2018 Sep 25 doi: 10.1177/1753193418800631. PMID: 30253685
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
Deep venous thrombosis of the upper extremity. A review.
Klitfod L, Broholm R, Baekgaard N
Int Angiol 2013 Oct;32(5):447-52. PMID: 23903301

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
Median and ulnar nerve anastomoses in the upper limb: A meta-analysis.
Roy J, Henry BM, PĘkala PA, Vikse J, Saganiak K, Walocha JA, Tomaszewski KA
Muscle Nerve 2016 Jun;54(1):36-47. Epub 2016 Apr 27 doi: 10.1002/mus.24993. PMID: 26599506
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

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
Patient-reported Outcomes in Arthrogryposis.
Wall LB, Vuillerman C, Miller PE, Bae DS, Goldfarb CA; CoULD Study Group
J Pediatr Orthop 2020 Aug;40(7):357-360. doi: 10.1097/BPO.0000000000001527. PMID: 32040062
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
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
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

Recent systematic reviews

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
Cold pressor test in spinal cord injury-revisited.
Hubli M, Bolt D, Krassioukov AV
Spinal Cord 2018 Jun;56(6):528-537. Epub 2017 Dec 20 doi: 10.1038/s41393-017-0037-z. PMID: 29259348
The prevalence of Os acromiale: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 May;27(4):610-21. Epub 2013 Dec 2 doi: 10.1002/ca.22343. PMID: 24302513

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