Triphalangeal Thumb

Duplication of the distal phalanx of the thumb, resulting in a 'duck-bill' appearance. Affected individuals may also have abnormalities of other fingers and feet, such as preaxial polydactyly. It is associated with mutations in the LMBR1 gene. OMIM: 174500

Networked: 26 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Polydactyly (Polydactylism)
2.	Syndactyly (Polysyndactyly)
3.	Osteochondromatosis
4.	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
5.	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)

Experts

1.	Galjaard, Robert Jan H: 1 article (10/2020)
2.	Hoogeboom, Jeannette: 1 article (10/2020)
3.	Potuijt, Jacob W P: 1 article (10/2020)
4.	de Graaff, Esther: 1 article (10/2020)
5.	van Nieuwenhoven, Christianne A: 1 article (10/2020)
6.	Bae, Donald S: 1 article (01/2018)
7.	Canizares, Maria F: 1 article (01/2018)
8.	Goldfarb, Charles A: 1 article (01/2018)
9.	Miller, Patricia E: 1 article (01/2018)
10.	Roberts, Summer: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Triphalangeal Thumb:

1.	9 alpha,11 alpha,15 alpha- trihydroxy- 16- phenoxy- 17,18,19,20- tetranorprosta- 4,5,13- trienoic acid (TPT)IBA 12/22/1999 - "The only family reported so far is of Dutch origin, and the genetic mapping study localized the TPT-PS locus at chromosome region 7q36 where the isolated triphalangeal thumb (TPT) anomaly has also been mapped. " 10/21/2022 - "Triphalangeal thumb (TPT) is a rare congenital malformation where the thumb has three phalanges instead of two. " 06/01/2016 - "Triphalangeal thumb (TPT) is a congenital condition characterized by the presence of an additional phalanx. " 12/15/2015 - "Triphalangeal thumb (TPT) is a relatively rare congenital anomaly of the hand with evidence for autosomal dominant transmission. " 06/01/2013 - "Triphalangeal thumb (TPT) is congenital hand anomaly which a thumb consists of three phalanges. "
2.	Transcription Factors (Transcription Factor)IBA 06/01/2010 - "In this study, we analyzed the effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb. " 06/01/2010 - "Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS."
3.	Tuberculin (PPD)IBA 07/01/2013 - "For example, the triphalangeal thumb, preaxial polysyndactyly, and the mirror hand deformity are considered as forms of PPD only in the genetics literature. " 01/01/2010 - "A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb." 01/01/2016 - "Triphalangeal thumb (TPT; OMIM 190600) is identified by an extra phalangeal bone and is often found in association with PPD. " 08/01/2014 - "Although most mutations cause preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation in position 404 of the ZRS causes more severe Werner mesomelic syndrome (WMS) for which malformations include the distal arm or leg bones in addition to the hands and/or feet. "
4.	Levodopa (L Dopa)FDA LinkGeneric 07/01/2004 - "These include mutations for benign familial cholestasis, diabetes mellitus, type I, infantile neuronal ceroid lipofuscinosis, L-DOPA responsive dystonia, and triphalangeal thumb. "
5.	ElementsIBA 06/01/2010 - "Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS."
6.	N-acetyltalosaminuronic acid (NAT)IBA 08/28/1995 - "Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287-291; Tsukurov et al., 1994: Nat Genet 6:282-286]. "
7.	2,5-dichloro-4-bromophenol (B 2)IBA 01/01/2018 - "The highest possible agreement (κ=1) was seen for the following diagnoses: congenital dislocation of radial head (OMT I.A.2.v), Madelung deformity (I.A.2.vii), radial polydactyly (I.B.2.iii), triphalangeal thumb (I.B.2.iv), Kirner deformity (I.B.4.vi), and osteochondromatosis (3.B.4.i). "

Therapies and Procedures

1.	Osteotomy 06/01/2016 - "Triphalangeal Thumb Reduction Osteotomy Through a Versatile Spiral Approach." 01/01/1992 - "Reduction osteotomy for triphalangeal thumb: an 11-year review." 05/01/1985 - "Combined reduction osteotomy for triphalangeal thumb." 02/01/2017 - "Reconstruction of Wassel Type VI Radial Polydactyly with Triphalangeal Thumb Using an On-top Osteotomy."