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Clinodactyly of the thumb

MedGen UID:: 341643
•Concept ID:: C1856888
•: Finding

Synonym:	Thumb clinodactyly

HPO:	HP:0040023

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVClinodactyly of the thumb

Abnormality of limbs
- Abnormality of limb bone
  - Abnormal limb bone morphology
    - Abnormal digit morphology
      - Clinodactyly
        Finger clinodactyly
        Clinodactyly 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).

See: Condition Record

Diamond-Blackfan anemia 21

Recent clinical studies

Etiology

Non-vascularized toe phalanx transfer for correction of severe clinodactyly of the thumb in Rubinstein-Taybi syndrome.

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

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

Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.

Cerrato FE, Nuzzi LC, Theman TA, Taghinia A, Upton J, Labow BI
Plast Reconstr Surg 2014 May;133(5):654e-661e. doi: 10.1097/PRS.0000000000000107. PMID: 24776567

Radiological and clinical outcome after operations in patients with congenital deficiencies of the wrist and hand.

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

The anatomy and management of the thumb in Apert syndrome.

Fereshetian S, Upton J
Clin Plast Surg 1991 Apr;18(2):365-80. PMID: 2065494

See all (12)

Diagnosis

Extremity anomalies associated with Robinow syndrome.

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

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

Fibrodysplasia ossificans progressiva.

Shaikh N, Arif F
J Pak Med Assoc 2011 Apr;61(4):397-9. PMID: 21465984

Failure of differentiation: Part II (arthrogryposis, camptodactyly, clinodactyly, madelung deformity, trigger finger, and trigger thumb).

Ty JM, James MA
Hand Clin 2009 May;25(2):195-213. doi: 10.1016/j.hcl.2008.12.003. PMID: 19380060

Obstetric US: watch the fetal hands.

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

See all (27)

Therapy

Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.

Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366 Free PMC Article

Inflammatory and noninflammatory arthropathy in patients with 18q deletion syndrome.

Safi KH, Fathalla BM
J Clin Rheumatol 2012 Jan;18(1):36-8. doi: 10.1097/RHU.0b013e31823e6df7. PMID: 22157270

Algorithm for treatment of apert hand.

Guero SJ
Tech Hand Up Extrem Surg 2005 Sep;9(3):126-33. doi: 10.1097/01.bth.0000185378.87246.61. PMID: 16175115

See all (3)

Prognosis

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

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

Radiological and clinical outcome after operations in patients with congenital deficiencies of the wrist and hand.

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

Obstetric US: watch the fetal hands.

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

Radiological features in Brachmann-de Lange syndrome.

Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Thirty cases of duplication of the thumb. Operative results.

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

See all (13)