Triphalangeal thumb

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Triphalangeal thumb
TPT five-fingered hand.jpeg
Finger-like appearance
Specialty Medical genetics, plastic surgery

Triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two. The extra phalangeal bone can vary in size from that of a small pebble to a size comparable to the phalanges in non-thumb digits. The true incidence of the condition is unknown, but is estimated at 1:25,000 live births. [1] In about two-thirds of the patients with triphalangeal thumbs, there is a hereditary component. [2] Besides the three phalanges, there can also be other malformations. It was first described by Columbi in 1559. [3]

Contents

Signs and symptoms

In combination with polydactyly X-ray TPT with polydactyly 2.tiff
In combination with polydactyly
Delta shaped extra phalanx X-ray delta shaped extra phalanx.tiff
Delta shaped extra phalanx

The triphalangeal thumb has a different appearance than normal thumbs. The appearance can differ widely; the thumb can be a longer thumb, it can be deviated in the radio-ulnar plane (clinodactyly), or thumb strength can be diminished. In the case of a five-fingered hand it has a finger-like appearance, with the position in the plane of the four fingers, thenar muscle deficiency, and additional length. There is often a combination with radial polydactyly.

Complications

Generally, triphalangeal thumbs are non-opposable. In contrast to most people with opposable thumbs, a person suffering from TPT cannot easily place his or her thumb opposite the other four digits of the same hand. The opposable thumb's ability to effortlessly utilize fingers in a "pinch" formation is critical in precision gripping. For the thumb to adequately grip, certain thumb criteria must be met (e.g. suitable position and length, stable joints and good thenar muscle strength). [4] Because triphalangeal thumbs cannot easily oppose and do not possess many of the optimal qualities found in most opposable thumbs, they tend to cause the hand to be less effective in use and, therefore, prove to be more problematic in daily life.

Cause

Malformations of the upper extremities can occur in the third to seventh embryonic week. [5] In some cases the TPT is hereditary. In these cases, there is a mutation on chromosome 7q36. [6] If the TPT is hereditary, it is mostly inherited as an autosomal dominant trait, [7] non-opposable and bilateral. [2] The sporadic cases are mostly opposable and unilateral. [8]

Syndromes

Triphalangeal thumb can occur in syndromes but it can also be isolated. The triphalangeal thumb can appear in combination with other malformations or syndromes. [5]

Syndromes include:

Malformations include: [5]

Diagnosis

Classifications

There are multiple classifications for the triphalangeal thumb. The reason for these different classifications is the heterogeneity in appearance of the TPT. The classification according to Wood [9] describes the shape of the extra phalanx: delta (Fig. 4), rectangular or full phalanx (Table 1). With the classification made by Buck-Gramcko a surgical treatment can be chosen (Table 1). Buck-Gramcko differentiates between six different shapes of the extra phalanx and associated malformations. [10]

Table 1: Classifications of Wood [9] and Buck-Gramcko [10]

Classification according to Wood by shape of the extra phalanxShapeClassification according to Buck-Gramcko by shape/size of extra phalanx and associated malformationsShape
IDeltaIRudimentary triphalangism
IIShort triangular middle phalanx (brachymesophalangeal)
IIRectangularIIITrapezoidal middle phalanx (intermediate)
IVLong rectangular middle phalanx (dolichophalangeal)
IIIFullVHypoplastic triphalangeal thumb
VITriphalangeal thumb associated with polydactyly

Treatment

The goals of surgical treatment are: reducing length of the thumb, creating a good functioning, a stable and non-deviated joint and improving the position of the thumb if necessary. Hereby improving function of the hand and thumb.

In general the surgical treatment is done for improvement of the thumb function. However, an extra advantage of the surgery is the improvement in appearance of the thumb. In the past, surgical treatment of the triphalangeal thumb was not indicated, [11] but now it is generally agreed that operative treatment improves function and appearance. Because an operation was not indicated in the past, there's still a population with an untreated triphalangeal thumb. The majority of this population doesn't want surgery, because the daily functioning of the hand is good. [11] The main obstacle for the untreated patients might not be the diminished function, but the appearance of the triphalangeal thumb. [11] The timing of surgery differs between Wood and Buck-Gramcko. Wood advises operation between the age of six months and two years, [12] while Buck-Gramcko advises to operate for all indications before the age of six years. [13]

- smaller trapezoidal phalanx and under six years: removal of the extra phalanx and reconstruction of the ulnar collateral ligament. Lengthening of the radial collateral ligament is only indicated when the clinodactyly is still present after reconstruction of the ulnar collateral ligament. [8]
- trapezoidal phalanx and older than six years: partial removal of the extra phalanx with correction of the angle. Arthrodesis of the distal interphalangeal joint (DIP). [8]

Related Research Articles

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Polydactyly or polydactylism, also known as hyperdactyly, is an anomaly in humans and non-human animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly.

<span class="mw-page-title-main">Thumb</span> First digit of the hand

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<span class="mw-page-title-main">Metacarpal bones</span> Bones of hand

In human anatomy, the metacarpal bones or metacarpus, also known as the "palm bones", are the appendicular bones that form the intermediate part of the hand between the phalanges (fingers) and the carpal bones, which articulate with the forearm. The metacarpal bones are homologous to the metatarsal bones in the foot.

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<span class="mw-page-title-main">Congenital clasped thumb</span> Medical condition

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<span class="mw-page-title-main">Radial dysplasia</span> Medical condition

Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting in radial deviation of the wrist and shortening of the forearm. It can occur in different ways, from a minor anomaly to complete absence of the radius, radial side of the carpal bones and thumb. Hypoplasia of the distal humerus may be present as well and can lead to stiffness of the elbow. Radial deviation of the wrist is caused by lack of support to the carpus, radial deviation may be reinforced if forearm muscles are functioning poorly or have abnormal insertions. Although radial longitudinal deficiency is often bilateral, the extent of involvement is most often asymmetric.

<span class="mw-page-title-main">Trapeziometacarpal osteoarthritis</span> Medical condition

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<span class="mw-page-title-main">Polysyndactyly</span> Medical condition

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<span class="mw-page-title-main">Familial opposable triphalangeal thumbs duplication</span> Medical condition

Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families. Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature.

<span class="mw-page-title-main">Kirner's deformity</span> Medical condition

Kirner's deformity, also known as dystelephangy, is an uncommon genetic hand malformation which is characterized by a radial and volar curvature of the distal phalange of the fifth (pinky) finger. It is merely cosmetic and doesn't affect hand function.

<span class="mw-page-title-main">Metacarpal synostosis</span> Medical condition

Metacarpal synostosis is a rare congenital difference which is characterized by the fusion of 2 metacarpals of the hand, which are usually shortened. It is most commonly seen as a fusion of the 4th and 5th metacarpals. It is a type of non-syndromic syndactyly/synostosis. Autosomal dominant and X-linked recessive inheritance patterns have been reported.

References

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  6. Heutink, P; Zguricas, J; van Oosterhout, L; et al. (March 1994). "The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q". Nature Genetics. 6 (3): 287–92. doi:10.1038/ng0394-287. hdl: 1765/57316 . PMID   8012392.
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  10. 1 2 Buck-Gramcko, congenital and development conditions, the interphalangeal joints- hand and upper limb, 1987
  11. 1 2 3 Zuidam JM, de Kraker M, Selles RW, Hovius SE, Evaluation of function and appearance of adults with untreated triphalangeal thumbs, J Hand Surg Am, 2010
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  13. Buck-Gramcko, The triphalangeal thumb, Congenital malformations of the hand and forearm, 1998