Radial aplasia

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Radial aplasia
Specialty Orthopedic

Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone (thumb side) which connects the humerus of the upper arm to the wrist via articulation with the carpal bones. A child born with this condition has either a short or absent radius bone in one or both of his or her arms. Radial aplasia also results in the thumb being either partly formed or completely absent from the hand, which can result in difficulties performing activities of daily living. Radial aplasia is connected with the condition VACTERL association, under the 'L' for limb malformations.[ citation needed ]

Radial aplasia is not inherited. The cause for radial aplasia is unknown, but is widely believed to occur within the first ten weeks of gestation. [1] The incidence is reported to be between 1 in 30,000 and 1 in 100,000 live births, bilateral in half, slightly more common in boys than girls. Most cases are sporadic, with only about 20% familial. [2]

Related Research Articles

TAR syndrome is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. It is associated with cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele.

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

Wrist drop is a medical condition in which the wrist and the fingers cannot extend at the metacarpophalangeal joints. The wrist remains partially flexed due to an opposing action of flexor muscles of the forearm. As a result, the extensor muscles in the posterior compartment remain paralyzed.

<span class="mw-page-title-main">Scaphoid bone</span> Bone of the carpus

The scaphoid bone is one of the carpal bones of the wrist. It is situated between the hand and forearm on the thumb side of the wrist. It forms the radial border of the carpal tunnel. The scaphoid bone is the largest bone of the proximal row of wrist bones, its long axis being from above downward, lateralward, and forward. It is approximately the size and shape of a medium cashew nut.

<span class="mw-page-title-main">Radius (bone)</span> One of the two long bones of the forearm

The radius or radial bone is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna. The ulna is longer than the radius, but the radius is thicker. The radius is a long bone, prism-shaped and slightly curved longitudinally.

<span class="mw-page-title-main">Squitten</span> Cat with a genetic deformity

A squitten is a cat with a genetic deformity which causes a partial formation or complete absence of the radius bone making it resemble a squirrel. These cats should be kept indoors and seen to by specialist veterinarians, as long term management of the condition is essential for quality of life in these cats. It is an example of a cat body type genetic mutation. The word is a portmanteau of squirrel and kitten.

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

The Galeazzi fracture is a fracture of the distal third of the radius with dislocation of the distal radioulnar joint. It classically involves an isolated fracture of the junction of the distal third and middle third of the radius with associated subluxation or dislocation of the distal radio-ulnar joint; the injury disrupts the forearm axis joint.

<span class="mw-page-title-main">Carpometacarpal joint</span> Joint between the wrist and hand

The carpometacarpal (CMC) joints are five joints in the wrist that articulate the distal row of carpal bones and the proximal bases of the five metacarpal bones.

Aplasia is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.

<span class="mw-page-title-main">Holt–Oram syndrome</span> Genetic disorder causing malformation of the heart and upper limb bones

Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands and often causes heart problems. The syndrome may include an absent radial bone in the forearm, an atrial septal defect in the heart, or heart block. It affects approximately 1 in 100,000 people.

<span class="mw-page-title-main">Duane-radial ray syndrome</span> Medical condition

Duane-radial ray syndrome, also known as Okihiro syndrome, is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder.

The posterior compartment of the forearm contains twelve muscles which primarily extend the wrist and digits. It is separated from the anterior compartment by the interosseous membrane between the radius and ulna.

<span class="mw-page-title-main">Muscles of the hand</span> Muscles of the human hand

The muscles of the hand are the skeletal muscles responsible for the movement of the hand and fingers. The muscles of the hand can be subdivided into two groups: the extrinsic and intrinsic muscle groups. The extrinsic muscle groups are the long flexors and extensors. They are called extrinsic because the muscle belly is located on the forearm. The intrinsic group are the smaller muscles located within the hand itself. The muscles of the hand are innervated by the radial, median, and ulnar nerves from the brachial plexus.

<span class="mw-page-title-main">Hand</span> Extremity at the end of an arm or forelimb

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.

Watson's test, also known as the scaphoid shift test, is a diagnostic test for instability between the scaphoid and lunate bones of the wrist.

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.

<span class="mw-page-title-main">Ectrodactyly</span> Malformation of the central digit(s) of the hand or foot

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.

<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">Wrist osteoarthritis</span> Medical condition

Wrist osteoarthritis is gradual loss of articular cartilage and hypertrophic bone changes (osteophytes). While in many joints this is part of normal aging (senescence), in the wrist osteoarthritis usually occurs over years to decades after scapholunate interosseous ligament rupture or an unhealed fracture of the scaphoid. Characteristic symptoms including pain, deformity and stiffness. Pain intensity and incapability are notably variable and do not correspond with arthritis severity on radiographs.

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

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.

Ulnar dysplasia also known as ulnar longitudinal deficiency, ulnar club hand or ulnar aplasia/hypoplasia is a rare congenital malformation which consists of an underdeveloped or missing ulnae bone, causing an ulnar deviation of the entire wrist. The muscles and nerves in the hand may be missing or unbalanced. In severe cases, ulnar digits may be missing. Sometimes, radial dysplasia occurs alongside this malformation. This condition occurs in 1 in 100,000 live births. Sometimes, other orthopedic problems occur alongside this malformation, such as scoliosis.

References

  1. Visser, Jan Douwes (2017-04-01). Pediatric Orthopedics: Symptoms, Differential Diagnosis, Supplementary Assessment and Treatment. Springer. p. 356. ISBN   9783319401782.
  2. Bayne, Loui G.; Klug, Mark S. (March 1987). "Long-term review of the surgical treatment of radial deficiencies". The Journal of Hand Surgery. 12 (2): 169–179. doi:10.1016/s0363-5023(87)80267-8. ISSN   0363-5023. PMID   3559066.