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Duplication of the middle phalanx of hand

MedGen UID:
866989
•Concept ID:
C4021346
•
Congenital Abnormality
Synonyms: Duplication of the middle bones of hand; Partial/complete duplication of the middle phalanges of the hand
 
HPO: HP:0010008

Definition

This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [from HPO]

Recent clinical studies

Etiology

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
Am J Med Genet A 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. PMID: 16222680
Treatment of lateral ray polydactyly of the foot: focusing on the selection of the toe to be excised.
Uda H, Sugawara Y, Niu A, Sarukawa S
Plast Reconstr Surg 2002 Apr 15;109(5):1581-91. doi: 10.1097/00006534-200204150-00015. PMID: 11932601

Diagnosis

Carpal coalition: a rare coincidence with hand deficiencies.
Sferopoulos NK, Tsitouridis I
Acta Orthop Belg 2003 Aug;69(4):317-20. PMID: 14526635
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Kantaputra PN, Chalidapong P
Am J Med Genet 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. PMID: 10869115
Acrorenal syndrome in an adult--presentation with proteinuria, hypertension, and glomerular lesions.
Zeier M, Tariverdian G, Waldherr R, Andrassy K, Ritz E
Am J Kidney Dis 1989 Sep;14(3):221-4. doi: 10.1016/s0272-6386(89)80075-7. PMID: 2773925

Prognosis

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.
Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson G, Oliver G, Pittock ST, Baughn LB, Klee EW, Babovic-Vuksanovic D
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004655. PMID: 31662300Free PMC Article

Clinical prediction guides

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.
Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson G, Oliver G, Pittock ST, Baughn LB, Klee EW, Babovic-Vuksanovic D
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004655. PMID: 31662300Free PMC Article
Preoperative percutaneous arthrography provides detailed information for treatment of Wassel type IV thumb duplication.
Liu Q, Zhong L, Li H, Liu J, Zhu Z, Qu W, Li R
J Plast Reconstr Aesthet Surg 2018 Dec;71(12):1717-1722. Epub 2018 Aug 24 doi: 10.1016/j.bjps.2018.08.003. PMID: 30366872
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
Am J Med Genet A 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. PMID: 16222680

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