Triphalangeal thumb | |
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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]
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.
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.
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]
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]
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 phalanx | Shape | Classification according to Buck-Gramcko by shape/size of extra phalanx and associated malformations | Shape |
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I | Delta | I | Rudimentary triphalangism |
II | Short triangular middle phalanx (brachymesophalangeal) | ||
II | Rectangular | III | Trapezoidal middle phalanx (intermediate) |
IV | Long rectangular middle phalanx (dolichophalangeal) | ||
III | Full | V | Hypoplastic triphalangeal thumb |
VI | Triphalangeal thumb associated with polydactyly |
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]
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.
The thumb is the first digit of the hand, next to the index finger. When a person is standing in the medical anatomical position, the thumb is the outermost digit. The Medical Latin English noun for thumb is pollex, and the corresponding adjective for thumb is pollical.
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.
Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant congenital disorder consisting of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral or just in the one wrist. It has only been recognized within the past hundred years. Named after Otto Wilhelm Madelung (1846–1926), a German surgeon, who described it in detail, it was noted by others. Guillaume Dupuytren mentioned it in 1834, Auguste Nélaton in 1847, and Joseph-François Malgaigne in 1855.
The radial collateral ligament of the thumb extends from the first metacarpal head to the proximal phalanx of the thumb. It is located on the radial side of the joint and is weaker than the ulnar collateral ligament of the thumb.
Gamekeeper's thumb is a type of injury to the ulnar collateral ligament (UCL) of the thumb. The UCL may be merely stretched, or it may be torn from its insertion site into the proximal phalanx of the thumb. This condition is commonly observed among gamekeepers and Scottish fowl hunters, as well as athletes. It also occurs among people who sustain a fall onto an outstretched hand while holding a rod, frequently skiers grasping ski poles.
A hand is a prehensile, multi-fingered appendage located at the end of the forearm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs. A few other vertebrates such as the koala are often described as having "hands" instead of paws on their front limbs. The raccoon is usually described as having "hands" though opposable thumbs are lacking.
A Stener lesion is a type of traumatic injury to the thumb. It occurs when the aponeurosis of the adductor pollicis muscle becomes interposed between the ruptured ulnar collateral ligament (UCL) of the thumb and its site of insertion at the base of the proximal phalanx. No longer in contact with its insertion site, the UCL cannot spontaneously heal.
Thumb hypoplasia is a spectrum of congenital abnormalities of the thumb varying from small defects to complete absence of the thumb. It can be isolated, when only the thumb is affected, and in 60% of the cases it is associated with radial dysplasia. Radial dysplasia is the condition in which the forearm bone and the soft tissues on the thumb side are underdeveloped or absent.
Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands. The incidence and genetic background are unknown. A study of Weckesser et al. showed that boys are twice as often affected with congenital clasped thumb compared to girls. The anomaly is in most cases bilateral . A congenital clasped thumb can be an isolated anomaly, but can also be attributed to several syndromes.
Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.
The extrinsic extensor muscles of the hand are located in the back of the forearm and have long tendons connecting them to bones in the hand, where they exert their action. Extrinsic denotes their location outside the hand. Extensor denotes their action which is to extend, or open flat, joints in the hand. They include the extensor carpi radialis longus (ECRL), extensor carpi radialis brevis (ECRB), extensor digitorum (ED), extensor digiti minimi (EDM), extensor carpi ulnaris (ECU), abductor pollicis longus (APL), extensor pollicis brevis (EPB), extensor pollicis longus (EPL), and extensor indicis (EI).
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.
Trapeziometacarpal osteoarthritis (TMC OA) is, also known as osteoarthritis at the base of the thumb, thumb carpometacarpal osteoarthritis, basilar (or basal) joint arthritis, or as rhizarthrosis. This joint is formed by the trapezium bone of the wrist and the metacarpal bone of the thumb. This is one of the joints where most humans develop osteoarthritis with age. Osteoarthritis is age-related loss of the smooth surface of the bone where it moves against another bone (cartilage of the joint). In reaction to the loss of cartilage, the bones thicken at the joint surface, resulting in subchondral sclerosis. Also, bony outgrowths, called osteophytes (also known as “bone spurs”), are formed at the joint margins.
Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit.
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.
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.
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.