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Aplasia of the distal phalanx of the thumb

MedGen UID:
867058
•Concept ID:
C4021416
•
Finding
Synonyms: Absence of the outermost bone of the thumb; Absent ossification/absent terminal thumb phalanx; Aplasia of the outermost bone of the thumb
 
HPO: HP:0009649

Definition

Absence of the distal/terminal phalanx of the thumb. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the distal phalanx of the thumb

Professional guidelines

PubMed

Opposable triphalangeal thumb: clinical features and results of treatment.
Ogino T, Ishii S, Kato H
J Hand Surg Am 1994 Jan;19(1):39-47. doi: 10.1016/0363-5023(94)90222-4. PMID: 8169367

Recent clinical studies

Etiology

Oblique Osteotomy for the Correction of the Zigzag Deformity of Wassel Type IV Polydactyly.
Kim BJ, Choi JH, Kwon ST
Plast Reconstr Surg 2017 Dec;140(6):1220-1228. doi: 10.1097/PRS.0000000000003877. PMID: 28820841
The anatomy of Wassel type IV-D thumb duplication.
He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434
Modified Extensor Pollicis Longus Rerouting Technique for Boutonniere Deformity of the Thumb in Rheumatoid Arthritis.
Iwamoto T, Sakuma Y, Momohara S, Matsumura N, Ochi K, Sato K
J Hand Surg Am 2016 Jun;41(6):e129-34. Epub 2016 Apr 23 doi: 10.1016/j.jhsa.2016.04.002. PMID: 27118392
Outcome of two types of surgical correction of the extra phalanx in triphalangeal thumb: is there a difference?
Zuidam JM, Selles RW, de Kraker M, Hovius SE
J Hand Surg Eur Vol 2016 Mar;41(3):253-7. Epub 2015 Mar 20 doi: 10.1177/1753193415576459. PMID: 25794887
Distraction osteogenesis and free nail graft after distal phalanx amputation.
Braga-Silva J, Padoin AV
J Hand Surg Am 2012 Dec;37(12):2541-6. doi: 10.1016/j.jhsa.2012.09.008. PMID: 23174067

Diagnosis

Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature.
Swed S, Nashwan AJ, Saleh HH, Chawa Y, Baria A, Etr A
Medicine (Baltimore) 2022 Oct 21;101(42):e31237. doi: 10.1097/MD.0000000000031237. PMID: 36281136Free PMC Article
Hypothesis: Symbrachydactyly.
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
Hypothesis: Central digit hypoplasia.
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679
The anatomy of Wassel type IV-D thumb duplication.
He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434

Therapy

Fingerprint changes and verification failure among patients with hand dermatitis.
Lee CK, Chang CC, Johar A, Puwira O, Roshidah B
JAMA Dermatol 2013 Mar;149(3):295-9. doi: 10.1001/jamadermatol.2013.1425. PMID: 23682364
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
J Med Genet 2007 Feb;44(2):89-98. Epub 2006 Jun 26 doi: 10.1136/jmg.2006.043687. PMID: 16801345Free PMC Article

Prognosis

Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly.
Saito S, Makino A, Yamanaka H, Tsuge I, Morimoto N
J Hand Surg Eur Vol 2023 Jan;48(1):10-19. Epub 2022 Oct 6 doi: 10.1177/17531934221126864. PMID: 36204982
The anatomy of Wassel type IV-D thumb duplication.
He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434
Unilateral congenital terminal finger absences: a condition that differs from symbrachydactyly.
Knight JB, Pritsch T, Ezaki M, Oishi SN
J Hand Surg Am 2012 Jan;37(1):124-9. Epub 2011 Nov 3 doi: 10.1016/j.jhsa.2011.09.018. PMID: 22051235
Anatomic variations in sensory innervation of the hand and digits.
Bas H, Kleinert JM
J Hand Surg Am 1999 Nov;24(6):1171-84. doi: 10.1053/jhsu.1999.1171. PMID: 10584938
Proximal toe phalanx transplantation for bony stabilization and lengthening of partially aplastic digits.
Buck-Gramcko D, Pereira JA
Ann Chir Main Memb Super 1990;9(2):107-18. doi: 10.1016/s0753-9053(05)80487-9. PMID: 1695513

Clinical prediction guides

Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly.
Saito S, Makino A, Yamanaka H, Tsuge I, Morimoto N
J Hand Surg Eur Vol 2023 Jan;48(1):10-19. Epub 2022 Oct 6 doi: 10.1177/17531934221126864. PMID: 36204982
Modified Bilhaut-Cloquet Procedure for the Reconstruction of Wassel Type III Radial Polydactyly.
Du Z, Qiu X, Han D, Jiang H
J Pediatr Orthop 2022 Jul 1;42(6):e636-e640. Epub 2022 Mar 14 doi: 10.1097/BPO.0000000000002139. PMID: 35275893
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679
Oblique Osteotomy for the Correction of the Zigzag Deformity of Wassel Type IV Polydactyly.
Kim BJ, Choi JH, Kwon ST
Plast Reconstr Surg 2017 Dec;140(6):1220-1228. doi: 10.1097/PRS.0000000000003877. PMID: 28820841
Reconstruction for Type IV Radial Polydactyly.
Wall LB, Goldfarb CA
J Hand Surg Am 2015 Sep;40(9):1873-6. Epub 2015 Aug 4 doi: 10.1016/j.jhsa.2015.06.097. PMID: 26248698

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