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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), 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). 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.
In clubfoot one or both feet are rotated inwards and downwards. The affected foot, calf, and leg may be smaller than the other. In about half of those affected, both feet are involved. Most cases are not associated with other problems. Without treatment, people walk on the sides of their feet which causes issues with walking.
Diagnosing the congenital clasped thumb is difficult in the first three to four months of life, as it is normal when the thumb is clutched into the palm in these first months.
Diagnoses that cause the same flexion or adduction abnormalities of the thumb are:
- Congenital clasped thumb
- Congenital Trigger thumb (flexion of the interphalangeal joint) - Trigger finger
- Spasticity: overstimulation of muscles
Syndrome associated flexion-adduction of the thumb:
- Freeman-Sheldon syndrome (a congenital, heritable affection of the face, the hands, the feet and some joints)
- Distal arthrogryposis
- MASA syndrome
- X-linked hydrocephalus
- Adducted thumb syndrome
- Waardenburg syndrome
- Whistling face syndrome (Freeman-Sheldon syndrome)
- Digitotalar dysmorphism
- Multiple pterygium syndrome
In general there are five types of thumb hypoplasia, originally described by Muller in 1937 and improved by Blauth, Buck-Gramcko and Manske.
- Type I: the thumb is small, normal components are present but undersized. Two muscles of the thumb, the abductor pollicis brevis and opponens pollicis, are not fully developed
. This type requires no surgical treatment in most cases.
- Type II is characterized by a tight web space between the thumb and index finger which restricts movement, poor thenar muscles and an unstable middle joint of the thumb metacarpophalangeal joint. This unstable thumb is best treated with reconstruction of the mentioned structures.
- Type III thumbs are subclassified into two subtypes by Manske. Both involve a less developed first metacarpal and a nearly absent thenar musculature. Type III-A has a fairly stable carpometacarpal joint and type III-B does not. The function of the thumb is poor. Children with type III are the most difficult patients to treat because there is not one specific treatment for the hypoplastic thumb. The limit between pollicization and reconstruction varies. Some surgeons have said that type IIIA is amenable to reconstruction and not type IIIB. Others say type IIIA is not suitable for reconstruction too. Based on the diagnosis the doctor has to decide what is needed to be done to obtain a more functional thumb, i.e. reconstruction or pollicization. In this group careful attention should be paid to anomalous tendons coming from the forearm (extrinsic muscles, like an aberrant long thumb flexor – flexor pollicis longus).
- Type IV is called a pouce flottant, floating thumb. This thumb has a neurovascular bundle which connects it to the skin of the hand. There’s no evidence of thenar muscles and rarely functioning tendons. It has a few rudimentary bones. Children with type IV are difficult to reconstruct. This type is nearly always treated with an index finger pollicization to improve hand function.
- Type V is no thumb at all and requires pollicization.
It is a congenital subluxation or dislocation of the ulna's distal end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the distal end of the radius with upward displacement of the distal fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked radial deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia of the radius.
The male:female rate of this disorder is 1:4. The incidence is unknown, and there is no described racial predominance. Even though Madelung's Deformity is considered a congenital disorder, symptoms sometimes aren't seen until adulthood. In most cases, symptoms find their onset during midchildhood. At this age, the relatively slower growth of the ulnar and palmar part of the radius, leads to an increasingly progressive deformity. Pain and deformity are the main symptoms patients present with. Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. As mentioned before, the severity of the disorder varies greatly, which also leads to a spectrum of presentation.
Classification of radial dysplasia is practised through different models. Some only include the different deformities or absences of the radius, where others also include anomalies of the thumb and carpal bones. The Bayne and Klug classification discriminates four different types of radial dysplasia. A fifth type was added by Goldfarb et al. describing a radial dysplasia with participation of the humerus. In this classification only anomalies of the radius and the humerus are taken in consideration. James and colleagues expanded this classification by including deficiencies of the carpal bones with a normal distal radius length as type 0 and isolated thumb anomalies as type N.
Type N: Isolated thumb anomaly
Type 0: Deficiency of the carpal bones
Type I: Short distal radius
Type II: Hypoplastic radius in miniature
Type III: Absent distal radius
Type IV: Complete absent radius
Type V: Complete absent radius and manifestations in the proximal humerus
The term absent radius can refer to the last 3 types.
Hammer toe most frequently results from wearing poorly fitting shoes that can force the toe into a bent position, such as excessively high heels or shoes that are too short or narrow for the foot. Having the toes bent for long periods of time can cause the muscles in them to shorten, resulting in the hammer toe deformity. This is often found in conjunction with bunions or other foot problems (e.g., a bunion can force the big toe to turn inward and push the other toes). It can also be caused by muscle, nerve, or joint damage resulting from conditions such as osteoarthritis, rheumatoid arthritis, stroke, Charcot–Marie–Tooth disease, complex regional pain syndrome or diabetes. Hammer toe can also be found in Friedreich's ataxia (GAA trinucleotide repeat).
Clubfoot is a birth defect where one or both feet are rotated inwards and downwards. The affected foot, calf, and leg may be smaller than the other. In about half of those affected, both feet are involved. Most cases are not associated with other problems. Without treatment, people walk on the sides of their feet which causes issues with walking.
The exact cause is usually unclear. A few cases are associated with distal arthrogryposis or myelomeningocele. If one identical twin is affected there is a 33% chance the other one will be as well. Diagnosis may occur at birth or before birth during an ultrasound exam.
Initial treatment is most often with the Ponseti method. This involves moving the foot into an improved position followed by casting, which is repeated at weekly intervals. Once the inward bending is improved, the Achilles tendon is often cut and braces are worn until the age of four. Initially the brace is worn nearly continuously and then just at night. In about 20% of cases further surgery is required.
Clubfoot occurs in about one in 1,000 newborns. The condition is less common among the Chinese and more common among Maori. Males are affected about twice as often as females. Treatment can be carried out by a range of healthcare providers and can generally be achieved in the developing world with few resources.
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral (in both wrists) or just in the one wrist.
It has only been recognized within the past hundred years.
The thumb contains five groups of muscle and/or tendons:
1. Extensor tendons (to stretch the thumb)
2. Flexor muscles/tendons (to bend the thumb)
3. Abductor muscles/tendons (to move the thumb outwards)
4. Adductor muscle (to move the thumb inwards)
5. Opposing muscles (to move the thumb opposite the small finger)
In order for the thumb to maintain a normal position, a strict balance between these groups is required. Weak or absent extensors and/or abductors (the extensor pollicis brevis tendon, the extensor pollicis longus tendon or, rarely, the abductor pollicis longus tendon), can cause a disbalance, leading to an abnormal position of the thumb: congenital clasped thumb. There is also the possibility that two tendons are affected simultaneously.
The following tendon deviations can induce congenital clasped thumb:
- The flexor tendons are too short (the thumb is drawn into the palm)
- The abductor tendons are hypoplastic or absent
- The extensor tendons are hypoplastic or absent
Furthermore, a tight thumb web space (the area between thumb and index finger) can contribute to congenital clasped thumb. The thumb cannot be properly abducted (moved outwards), if the web space is too tight.
To summarize, the causes of congenital clasped thumbs may vary between patients and can sometimes be a combination of the preceding components. Treatment should be tailored to all occurring components in order to achieve good results.
Ape hand deformity, also known as simian hand, is a deformity in humans who cannot move the thumb away from the rest of the hand. It is an inability to abduct the thumb. Abduction of the thumb refers to the specific capacity to orient the thumb perpendicularly to the ventral (palmar) surface of the hand. Opposition refers specifically the ability to "swing" the first metacarpal such that the tip of the thumb may touch the distal end of the 5th phalanx and if we put the hand on the table as the palm upward the thumb can not point to the sky. The Ape Hand Deformity is caused by damage to the distal median nerve (also called a Median Claw lesion), and subsequent loss of opponens pollicis muscle function. The name "ape hand deformity" is misleading, as apes have opposable thumbs.
It can occur with an injury of the median nerve either at the elbow or the wrist, impairing the thenar muscles and opponens pollicis muscle.
Ape hand deformity is one aspect of median nerve palsy, which is usually caused by deep injuries to the arm, forearm and wrist area.
Ape hand caused by median and ulnar nerve lesions
Thumb hypoplasia is a spectrum of congenital abnormalities of the thumb varying from small defects to absolute retardation 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 (or radial club, radius dysplasia, longitudinal radial deficiency). Radial dysplasia is the condition in which the forearm bone and the soft tissues on the thumb side are underdeveloped or absent.
In an embryo the upper extremities develop from week four of the gestation. During the fifth to eighth week the thumb will further develop. In this period something goes wrong with the growth of the thumb but the exact cause of thumb hypoplasia is unknown.
One out of every 100,000 live births shows thumb hypoplasia. In more than 50% of the cases both hands are affected, otherwise mainly the right hand is affected.
About 86% of the children with hypoplastic thumb have associated abnormalities. Embryological hand development occurs simultaneously with growth and development of the cardiovascular, neurologic and hematopoietic systems. Thumb hypoplasia has been described in 30 syndromes wherein those abnormalities have been seen. A syndrome is a combination of three or more abnormalities. Examples of syndromes with an hypoplastic thumb are Holt-Oram syndrome, VACTERL association and thrombocytopenia absent radius (TAR syndrome).
A hammer toe or contracted toe is a deformity of the proximal interphalangeal joint of the second, third, or fourth toe causing it to be permanently bent, resembling a hammer. Mallet toe is a similar condition affecting the distal interphalangeal joint.
Claw toe is another similar condition, with dorsiflexion of the proximal phalanx on the lesser metatarsophalangeal joint, combined with flexion of both the proximal and distal interphalangeal joints. Claw toe can affect the second, third, fourth, or fifth toes.
An equinovalgus is a deformity of the human foot. It may be a flexible deformity or a fixed deformity. Equino- means plantarflexed (as in standing on one's toes), and valgus means that the base of the heel is rotated away from the midline of the foot (eversion) and abduction of foot. This means that the patient is placing his/her weight on the medial border of the foot, and the arch of the foot is absent, which distorts the foot's normal shape.
Equinovalgus mostly occurs due to tightness of plantar flexors (calf muscles) and peroneus group of muscles.
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 stiffnes 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.
The incidence is between 1:30,000 and 1:100,000 and it is more often a sporadic mutation rather than an inherited condition. In case of an inherited condition, several syndromes are known for an association with radial dysplasia, such as the cardiovascular Holt-Oram syndrome, the gastrointestinal VATER syndrome and the hematologic Fanconi anemia and TAR syndrome. Other possible causes are an injury to the apical ectodermal ridge during upper limb development, intrauterine compression, or maternal drug use (thalidomide).
Instances in which the medial epicondyle of the distal humerus is malformed due to the initial fracture at the humeral endplate may result in subluxation (snapping) of the ulnar nerve over the medial epicondyle with active flexion and extension of the elbow. In such instances, conductance of the ulnar nerve may be compromised due to chronic irritation, potentially resulting in irreversible ulnar neuropathy.
This is a very rare situation, in which the extra digit is on the ring, middle or index finger. Of these fingers, the index finger is most often affected, whereas the ring finger is rarely affected.
This type of polydactyly can be associated with syndactyly, cleft hand and several syndromes.
Polysyndactyly presents various degrees of syndactyly affecting fingers three and four.
Cubitus varus (varus means a deformity of a limb in which part of it is deviated towards the midline of the body) is a common deformity in which the extended forearm is deviated towards midline of the body.
Cubitus varus is often referred to as "Gunstock deformity", due to the crooked nature of the healing.
The "opposite" condition is cubitus valgus.
The classification of ulnar polydactyly exists of either two or three types. The two-stage classification, according to Temtamy and McKusick, involves type A and B. In type A there is an extra little finger at the metacarpophalangeal joint, or more proximal including the carpometacarpal joint. The little finger can be hypoplastic or fully developed. Type B varies from a nubbin to an extra, non-functional little finger part on a pedicle. According to the three-type classification, type I includes nubbins or floating little fingers, type II includes duplications at the MCPJ, and type III includes duplications of the entire ray.
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended. A small degree of cubitus valgus (known as the carrying angle) is acceptable and occurs in the general population.
When present at birth, it can be an indication of Turner syndrome or Noonan syndrome. It can also be acquired through fracture or other trauma. The physiological cubitus valgus varies from 3° to 29°. Women usually have a more pronounced Cubitus valgus than men. The deformity can also occur as a complication of fracture of the lateral condyle of the humerus, which may lead to tardy/delayed ulnar nerve palsy.
The opposite condition is cubitus varus ().
Besides the clicking, snapping or triggering, a characteristic Notta nodule is commonly found on the palmar side at the metacarpophalangeal (MCP) joint. This nodule can be found by palpation. Children can also present a thumb which they cannot extend actively due to entrapment of the nodule to the A1 pulley. Some may even present with a fixed flexion deformity of the IPJ where no extension is possible.
A hand deformity is a disorder of the hand that can be congenital or acquired.
An example is Madelung's deformity.
Swan neck deformity has many possible causes arising from the DIP, PIP, or even the MCP joints. In all cases, there is a stretching of the volar plate at the PIP joint to allow hyperextension, plus some damage to the attachment of the extensor tendon to the base of the distal phalanx that produces a hyperflexed mallet finger. Duck bill deformity is a similar condition affecting the thumb (which cannot have true swan neck deformity because it does not have enough joints).
All acrocephalosyndactyly syndromes show some level of limb anomalies, so it can be hard to tell them apart. However, the typical hand deformities in patients with Apert Syndrome distinguish it from the other syndromes.
The hands in patients with Apert syndrome always show four common features:
1. a short thumb with radial deviation
2. complex syndactyly of the index, long and ring finger
3. symbrachyphalangism
4. simple syndactyly of the fourth webspace
The deformity of the space between the index finger and the thumb may be variable. Based on this first webspace, we can differentiate three different types of handdeformation:
- Type I: Also called a "spade hand". The most common and least severe type of deformation. The thumb shows radial deviation and clinodactyly, but is separated from the index finger. The index, long and ring finger are fused together in the distal interphalangeal joints and form a flat palm. During the embryonic stage, the fusion has no effect on the longitudinal growth of these fingers, so they have a normal length. In the fourth webspace, we always see a simple syndactyly, either complete or incomplete.
- Type II: Also called a "spoon" or "mitten" hand. This is a more serious anomaly since the thumb is fused to the index finger by simple complete or incomplete syndactyly. Only the distal phalanx of the thumb is not joined in the osseous union with the index finger and has a separate nail. Because the fusion of the digits is at the level of the distal interphalangeal joints, a concave palm is formed. Most of the time, we see complete syndactyly of the fourth webspace.
- Type III: Also called the "hoof" or "rosebud" hand. This is the most uncommon but also most severe form of hand deformity in Apert syndrome. There is a solid osseous or cartilaginous fusion of all digits with one long, conjoined nail. The thumb is turned inwards and it is often impossible to tell the fingers apart. Usually proper imaging of the hand is very difficult, due to overlap of bones, but physical examination alone is not enough to measure the severity of deformation