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Thumb deformity

MedGen UID:
107901
Concept ID:
C0575897
Finding
Synonyms: Abnormal thumb morphology; Abnormality of the thumb; 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.
Lacrimoauriculodentodigital syndrome 2
MedGen UID:
1824059
Concept ID:
C5774286
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-2 (LADD2) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).

Professional guidelines

PubMed

Gilboa Y, Berkenstadt M, Leytes S, Achiron R, Perlman S
J Matern Fetal Neonatal Med 2018 May;31(10):1285-1289. Epub 2017 Apr 20 doi: 10.1080/14767058.2017.1315096. PMID: 28372511
Kotwal PP, Varshney MK, Soral A
J Hand Surg Eur Vol 2012 Feb;37(2):161-9. Epub 2011 Jun 27 doi: 10.1177/1753193411413070. PMID: 21708841

Recent clinical studies

Etiology

Salloum NL, McGee P, Lam WL
J Plast Surg Hand Surg 2023 Feb-Dec;57(1-6):181-185. Epub 2022 Feb 2 doi: 10.1080/2000656X.2022.2032104. PMID: 35108158
Chughtai M, McConaghy K, Bui X, Kwiecien GJ, Seitz WH Jr
Hand (N Y) 2023 May;18(3):413-420. Epub 2021 Aug 23 doi: 10.1177/15589447211038706. PMID: 34420411Free PMC Article
Vergara-Amador E, Herrera-Rodríguez J, López-Rincón L
J Hand Surg Asian Pac Vol 2021 Jun;26(2):214-217. doi: 10.1142/S242483552150020X. PMID: 33928854
Kozin SH, Zlotolow DA
Plast Reconstr Surg 2015 Aug;136(2):241e-257e. doi: 10.1097/PRS.0000000000001499. PMID: 26218399
Terrono A, Millender L, Nalebuff E
J Hand Surg Am 1990 Nov;15(6):999-1003. doi: 10.1016/0363-5023(90)90032-m. PMID: 2269799

Diagnosis

Bourke G, Wilks D, Kinsey S, Feltbower RG, Giri N, Alter BP
J Hand Surg Eur Vol 2022 Jul;47(7):711-715. Epub 2022 Mar 31 doi: 10.1177/17531934221087521. PMID: 35360980
Bai RJ, Zhang HB, Zhan HL, Qian ZH, Wang NL, Liu Y, Li WT, Yin YM
Chin Med J (Engl) 2018 May 5;131(9):1051-1058. doi: 10.4103/0366-6999.230721. PMID: 29692376Free PMC Article
Gilboa Y, Berkenstadt M, Leytes S, Achiron R, Perlman S
J Matern Fetal Neonatal Med 2018 May;31(10):1285-1289. Epub 2017 Apr 20 doi: 10.1080/14767058.2017.1315096. PMID: 28372511
Kozin SH, Zlotolow DA
Plast Reconstr Surg 2015 Aug;136(2):241e-257e. doi: 10.1097/PRS.0000000000001499. PMID: 26218399
Tonkin MA
J Hand Surg Eur Vol 2014 Nov;39(9):948-55. Epub 2013 Dec 20 doi: 10.1177/1753193413516246. PMID: 24362256

Therapy

Tomhave WA, Kollitz KM, Moran SL
J Hand Surg Am 2019 Jul;44(7):618.e1-618.e8. Epub 2018 Oct 23 doi: 10.1016/j.jhsa.2018.09.009. PMID: 30366734
Carlsson IK, Dahlin LB, Rosberg HE
Disabil Rehabil 2018 Jan;40(1):69-75. Epub 2016 Dec 5 doi: 10.1080/09638288.2016.1243159. PMID: 27917688
Molenaar HM, Selles RW, de Kraker M, Stam HJ, Hovius SE
Clin Biomech (Bristol, Avon) 2013 Oct;28(8):879-85. Epub 2013 Jul 27 doi: 10.1016/j.clinbiomech.2013.07.011. PMID: 23948239
Adams D, Cheng F, Jou H, Aung S, Yasui Y, Vohra S
Pediatrics 2011 Dec;128(6):e1575-87. Epub 2011 Nov 21 doi: 10.1542/peds.2011-1091. PMID: 22106073
Oishi SN, Ezaki M
Tech Hand Up Extrem Surg 2010 Jun;14(2):100-3. doi: 10.1097/BTH.0b013e3181da07c1. PMID: 20526163

Prognosis

Bourke G, Wilks D, Kinsey S, Feltbower RG, Giri N, Alter BP
J Hand Surg Eur Vol 2022 Jul;47(7):711-715. Epub 2022 Mar 31 doi: 10.1177/17531934221087521. PMID: 35360980
Kozin SH, Zlotolow DA
Plast Reconstr Surg 2015 Aug;136(2):241e-257e. doi: 10.1097/PRS.0000000000001499. PMID: 26218399
Patel AU, Tonkin MA, Smith BJ, Alshehri AH, Lawson RD
J Hand Surg Eur Vol 2014 Nov;39(9):934-43. Epub 2013 Dec 5 doi: 10.1177/1753193413514650. PMID: 24309550
Wilks DJ, Kay SP, Bourke G
J Plast Reconstr Aesthet Surg 2012 Aug;65(8):1083-6. Epub 2012 Mar 3 doi: 10.1016/j.bjps.2012.02.015. PMID: 22386531
Terrono A, Millender L, Nalebuff E
J Hand Surg Am 1990 Nov;15(6):999-1003. doi: 10.1016/0363-5023(90)90032-m. PMID: 2269799

Clinical prediction guides

Fang X, Yu A, Dai X, Bai H, Zhou J, Li D, Du X, Tian J, Zhou S, Wang B
Plast Reconstr Surg 2023 Nov 1;152(5):1047-1056. Epub 2023 Apr 5 doi: 10.1097/PRS.0000000000010513. PMID: 37014962
Vergara-Amador E, Herrera-Rodríguez J, López-Rincón L
J Hand Surg Asian Pac Vol 2021 Jun;26(2):214-217. doi: 10.1142/S242483552150020X. PMID: 33928854
Tian X, Chan P, Li A, Xiao J, Chen W, Chim H
J Hand Surg Am 2019 Oct;44(10):860-867. Epub 2019 Jun 17 doi: 10.1016/j.jhsa.2019.04.013. PMID: 31221518
Tomhave WA, Kollitz KM, Moran SL
J Hand Surg Am 2019 Jul;44(7):618.e1-618.e8. Epub 2018 Oct 23 doi: 10.1016/j.jhsa.2018.09.009. PMID: 30366734
Wilks DJ, Kay SP, Bourke G
J Plast Reconstr Aesthet Surg 2012 Aug;65(8):1083-6. Epub 2012 Mar 3 doi: 10.1016/j.bjps.2012.02.015. PMID: 22386531

Recent systematic reviews

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
Adams D, Cheng F, Jou H, Aung S, Yasui Y, Vohra S
Pediatrics 2011 Dec;128(6):e1575-87. Epub 2011 Nov 21 doi: 10.1542/peds.2011-1091. PMID: 22106073

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