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Abnormal thumb morphology

MedGen UID:
107901
Concept ID:
C0575897
Finding
Synonyms: Abnormality of the thumb; Thumb deformity; Thumb deformity (disease)
SNOMED CT: Deformity of thumb (299130003)
 
HPO: HP:0001172
Monarch Initiative: MONDO:0008561
OMIM®: 188100

Definition

An abnormal structure of the first digit of the hand. [from HPO]

Clinical features

From HPO
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.

Conditions with this feature

Snapping thumb syndrome
MedGen UID:
98044
Concept ID:
C0410060
Acquired Abnormality
Pediatric trigger thumb is caused by a mismatch between the flexor pollicis longus tendon and its sheath. Patients present with a hard, palpable nodule (Notta's node) at the base of the metacarpal and an inability to extend the thumb beyond 30 degrees, which can rarely be accompanied by triggering, snapping, or a digit locked in extension (summary by Wang et al., 2012).
Fanconi anemia complementation group G
MedGen UID:
854017
Concept ID:
C3469527
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.

Professional guidelines

PubMed

Shridhar V, Williams S
Aust J Gen Pract 2020 Nov;49(11):702-706. doi: 10.31128/AJGP-06-20-5504. PMID: 33123712
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
Colen DL, Lin IC, Levin LS, Chang B
J Hand Surg Am 2017 Jul;42(7):546-563. doi: 10.1016/j.jhsa.2017.04.012. PMID: 28669420

Recent clinical studies

Etiology

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Mortimer PS
Br J Dermatol 1985 Oct;113(4):467-73. doi: 10.1111/j.1365-2133.1985.tb02362.x. PMID: 4063181
Miura T
Plast Reconstr Surg 1982 Mar;69(3):470-81. doi: 10.1097/00006534-198203000-00012. PMID: 7063570

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Watt AJ, Chung KC
Hand Clin 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. PMID: 19380065
Maschke SD, Seitz W, Lawton J
J Am Acad Orthop Surg 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. PMID: 17213381
Vogels A, Fryns JP
Orphanet J Rare Dis 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. PMID: 16740155Free PMC Article
Wood VE
Clin Orthop Relat Res 1985 May;(195):7-25. PMID: 2983921

Therapy

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
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Felding UNA
Dan Med J 2018 Mar;65(3) PMID: 29510812
Mortimer PS
Br J Dermatol 1985 Oct;113(4):467-73. doi: 10.1111/j.1365-2133.1985.tb02362.x. PMID: 4063181
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

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
Dijkman RR, van Nieuwenhoven CA, Hovius SE, Hülsemann W
Handchir Mikrochir Plast Chir 2016 Feb;48(1):10-7. Epub 2016 Feb 19 doi: 10.1055/s-0042-100460. PMID: 26895514
Valauri FA, Buncke HJ
Clin Plast Surg 1989 Jul;16(3):475-89. PMID: 2673628
Miura T
Plast Reconstr Surg 1982 Mar;69(3):470-81. doi: 10.1097/00006534-198203000-00012. PMID: 7063570
Benjamin B, Pitkin J, Cohen D
Ann Otol Rhinol Laryngol 1981 Jul-Aug;90(4 Pt 1):364-71. doi: 10.1177/000348948109000416. PMID: 7271149

Clinical prediction guides

Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Felding UNA
Dan Med J 2018 Mar;65(3) PMID: 29510812
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
Shreve M, Chu A
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):97-108. PMID: 26977555

Recent systematic reviews

De Almeida YK, Athlani L, Piessat C, Delgove A, Dap F, Dautel G
Hand Surg Rehabil 2022 Feb;41(1):22-30. Epub 2021 Oct 21 doi: 10.1016/j.hansur.2021.10.311. PMID: 34687972
Delgove A, Camuzard O, Perez M, Braun M, Journeau P, Dautel G
Plast Reconstr Surg 2021 Aug 1;148(2):367-374. doi: 10.1097/PRS.0000000000008201. PMID: 34153012
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Yammine K
Surg Radiol Anat 2015 Apr;37(3):247-54. Epub 2014 Aug 6 doi: 10.1007/s00276-014-1352-0. PMID: 25096501
Yammine K
Clin Anat 2014 Nov;27(8):1291-303. Epub 2014 Feb 25 doi: 10.1002/ca.22378. PMID: 24615762

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