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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
Ultrasound criteria for lipedema diagnosis.
Amato ACM, Saucedo DZ, Santos KDS, Benitti DA
Phlebology 2021 Sep;36(8):651-658. Epub 2021 Apr 15 doi: 10.1177/02683555211002340. PMID: 33853452
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
Novel approach for Recanalization and Limb Saving Following Acute Thrombosis of Upper Limb Arteries in Two Neonates After Congenital Heart Surgery.
Al-Ata J, Abdelmohsen G, Bahaidarah S, Alkhushi N, Zaher Z
Klin Padiatr 2021 Mar;233(2):75-78. Epub 2020 Oct 22 doi: 10.1055/a-1258-4349. PMID: 33091935
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
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

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
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
Nager syndrome.
Lansinger Y, Rayan G
J Hand Surg Am 2015 Apr;40(4):851-4. Epub 2014 Dec 24 doi: 10.1016/j.jhsa.2014.10.064. PMID: 25543163
Holt-Oram syndrome.
Goldfarb CA, Wall LB
J Hand Surg Am 2014 Aug;39(8):1646-8. Epub 2014 Mar 20 doi: 10.1016/j.jhsa.2014.02.015. PMID: 24656395
Introduction: the science and the surgery of congenital upper-limb malformations.
James MA, Armstrong PF
J Bone Joint Surg Am 2009 Jul;91 Suppl 4:1-2. doi: 10.2106/JBJS.I.00434. PMID: 19571061

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
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
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article
Phenocopy.
Lenz W
Humangenetik 1970;9(3):227-9. doi: 10.1007/BF00279225. PMID: 5465540

Prognosis

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
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
Treatment of congenital differences of the upper extremity: therapist's commentary.
Fuller M
J Hand Ther 1999 Apr-Jun;12(2):174-7. doi: 10.1016/s0894-1130(99)80021-0. PMID: 10365710
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

Validation and incorporation of digital entheses into a preliminary GLobal OMERACT Ultrasound DActylitis Score (GLOUDAS) in psoriatic arthritis.
Naredo E, D'Agostino MA, Terslev L, Pineda C, Miguel MI, Blasi J, Bruyn GA, Kortekaas MC, Mandl P, Nestorova R, Szkudlarek M, Todorov P, Vlad V, Wong P, Bakewell C, Filippucci E, Zabotti A, Micu M, Vreju F, Mortada M, Mendonça JA, Guillen-Astete CA, Olivas-Vergara O, Iagnocco A, Hanova P, Tinazzi I, Balint PV, Aydin SZ, Kane D, Keen H, Kaeley GS, Möller I
Ann Rheum Dis 2024 Jul 15;83(8):1060-1071. doi: 10.1136/ard-2023-225278. PMID: 38531611
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
Classifications in Brief: The Wassel Classification for Radial Polydactyly.
Manske MC, Kennedy CD, Huang JI
Clin Orthop Relat Res 2017 Jun;475(6):1740-1746. Epub 2016 Sep 9 doi: 10.1007/s11999-016-5068-9. PMID: 27613532Free PMC Article
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
Ultrasonography Is Accurate for Diagnosing Upper Extremity Fractures in Children.
Barry HC
Am Fam Physician 2021 Dec 1;104(6):Online. PMID: 34913666
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
A systematic review and pooled analysis of the prevalence of rotator cuff disease with increasing age.
Teunis T, Lubberts B, Reilly BT, Ring D
J Shoulder Elbow Surg 2014 Dec;23(12):1913-1921. doi: 10.1016/j.jse.2014.08.001. PMID: 25441568

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