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Clinodactyly of the thumb

MedGen UID:
341643
Concept ID:
C1856888
Finding
Synonym: Thumb clinodactyly
 
HPO: HP:0040023

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClinodactyly of the thumb

Conditions with this feature

Diamond-Blackfan anemia 21
MedGen UID:
1824003
Concept ID:
C5774230
Disease or Syndrome
Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Recent clinical studies

Etiology

Le Mapihan M, Badina A, Pannier S, Salon A, Glorion C, Guero S
J Hand Surg Eur Vol 2020 Sep;45(7):715-721. Epub 2020 Mar 12 doi: 10.1177/1753193420909784. PMID: 32164471
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Schmelzer-Schmied N, Jung M, Ludwig K
Eur J Radiol 2011 Feb;77(2):261-8. Epub 2010 Nov 17 doi: 10.1016/j.ejrad.2010.10.023. PMID: 21087835
Fereshetian S, Upton J
Clin Plast Surg 1991 Apr;18(2):365-80. PMID: 2065494
Richard Y, Collin JP, Asencio JG, Vanneuville G, Elzein F, Daoud S, Schernberg F
Ann Chir Main 1983;2(1):46-55. doi: 10.1016/s0753-9053(83)80079-9. PMID: 9336630

Diagnosis

Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366Free PMC Article
Abu-Ghname A, Trost J, Davis MJ, Sutton VR, Zhang C, Guillen DE, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3584-3592. Epub 2020 Sep 25 doi: 10.1002/ajmg.a.61884. PMID: 32974972
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Shaikh N, Arif F
J Pak Med Assoc 2011 Apr;61(4):397-9. PMID: 21465984
Ty JM, James MA
Hand Clin 2009 May;25(2):195-213. doi: 10.1016/j.hcl.2008.12.003. PMID: 19380060

Therapy

Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366Free PMC Article
Safi KH, Fathalla BM
J Clin Rheumatol 2012 Jan;18(1):36-8. doi: 10.1097/RHU.0b013e31823e6df7. PMID: 22157270
Guero SJ
Tech Hand Up Extrem Surg 2005 Sep;9(3):126-33. doi: 10.1097/01.bth.0000185378.87246.61. PMID: 16175115

Prognosis

Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
Schmelzer-Schmied N, Jung M, Ludwig K
Eur J Radiol 2011 Feb;77(2):261-8. Epub 2010 Nov 17 doi: 10.1016/j.ejrad.2010.10.023. PMID: 21087835
Tansley PD, Pickford MA
J Hand Surg Eur Vol 2009 Aug;34(4):516-8. Epub 2009 Apr 24 doi: 10.1177/1753193409103246. PMID: 19395535
Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A
Radiographics 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113. PMID: 16702456
Richard Y, Collin JP, Asencio JG, Vanneuville G, Elzein F, Daoud S, Schernberg F
Ann Chir Main 1983;2(1):46-55. doi: 10.1016/s0753-9053(83)80079-9. PMID: 9336630

Clinical prediction guides

Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366Free PMC Article
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C
Am J Med Genet 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S. PMID: 8725781
Fereshetian S, Upton J
Clin Plast Surg 1991 Apr;18(2):365-80. PMID: 2065494

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