Madelung's deformity is usually characterized by malformed

wrist In human anatomy, the wrist is variously defined as (1) the carpus or carpal bones, the complex of eight bones forming the proximal skeletal segment of the hand; "The wrist contains eight bones, roughly aligned in two rows, known as the carpal ...

s 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. 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.

Signs and symptoms

It is a

congenital A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

subluxation A subluxation is an incomplete or partial dislocation of a joint or organ. According to the World Health Organization, a subluxation is a "significant structural displacement" and is therefore visible on static imaging studies, such as X-rays. ...

dislocation In materials science, a dislocation or Taylor's dislocation is a linear crystallographic defect or irregularity within a crystal structure that contains an abrupt change in the arrangement of atoms. The movement of dislocations allow atoms to sli ...

of the

ulna The ulna or ulnar bone (: ulnae or ulnas) is a long bone in the forearm stretching from the elbow to the wrist. It is on the same side of the forearm as the little finger, running parallel to the Radius (bone), radius, the forearm's other long ...

'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 In classical geometry, a radius (: radii or radiuses) of a circle or sphere is any of the line segments from its Centre (geometry), center to its perimeter, and in more modern usage, it is also their length. The radius of a regular polygon is th ...

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 ulnar deviation of the hand. Severe deformities are associated with congenital absence or

hypoplasia Hypoplasia (; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.congenital disorder A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

, 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.

Genetics

Leri-Weill dyschondrosteosis is a pseudo

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

disorder which occurs more frequently in females and is due to a mutation, deletion or duplication of the

SHOX gene The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X chromosome, X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy ...

. The SHOX gene plays a particularly important role in the growth and maturation of bones in the arms and legs. The SHOX gene is located within band Xp22.3 of the

pseudoautosomal region The pseudoautosomal regions or PARs are Homology (biology), homologous sequences of Nucleotide, nucleotides found within the Sex chromosome, sex chromosomes of species with an XY sex-determination system, XY or ZW sex-determination system, ZW mech ...

of the X chromosome, which escapes X-inactivation.

Homozygous Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mos ...

SHOX gene mutations result in Langer mesomelic dysplasia.

Pathogenesis

Madelung deformity of the wrist is caused by a growth disturbance in the inferior volar part of the epiphysial growth plate in the distal radius, resulting in a volar placed slope of the lunate facet and scaphoid facet. This produces volar translation of the hand and wrist. The ulna continues growing straight, resulting in a dorsally prominent distal ulna. It occurs predominantly in adolescent females, who present with pain, decreased range of motion, and deformity. It often has a genetic cause and is associated with mesomelic dwarfism and a mutation on the X chromosome. Attempts can be made to treat the deformity surgically by addressing the deforming bone and fibrous bands called "Vickers ligament". This is an abnormal ligament formed between the

lunate bone The lunate bone (semilunar bone) is a carpal bone in the human hand. It is distinguished by its deep concavity and crescentic outline. It is situated in the center of the proximal row carpal bones, which lie between the ulna and radius and the h ...

of the wrist and the

and is found in 91% of cases of Madelung's deformity.

Diagnosis

Diagnosis is normally confirmed by X-rays.

Treatment

Non-surgical

First options for treatment are conservative, using hot or cold packs, rest and

NSAID Non-steroidal anti-inflammatory drugs (NSAID) are members of a therapeutic drug class which reduces pain, decreases inflammation, decreases fever, and prevents blood clots. Side effects depend on the specific drug, its dose and duration of ...

's at first. If no improvement is made, a splint or brace can be used to keep the deviated arm straight. When none of the conservative treatments work surgical intervention is designated.

Surgical

Pediatrics

''Physiolysis'' Purpose of the treatment is the removal of the

epiphysis An epiphysis (; : epiphyses) is one of the rounded ends or tips of a long bone that ossify from one or more secondary centers of ossification. Between the epiphysis and diaphysis (the long midsection of the long bone) lies the metaphysis, inc ...

that causes the abnormal growth of the wrist. This is done by making a small incision at the volar-radial side. This approach passes the

Flexor pollicis longus The flexor pollicis longus (; FPL, Latin ''flexor'', bender; ''pollicis'', of the thumb; ''longus'', long) is a muscle in the forearm and hand that flexes the thumb. It lies in the same plane as the flexor digitorum profundus. This muscle is uniq ...

and

Palmaris longus The palmaris longus is a muscle visible as a small tendon located between the flexor carpi radialis and the flexor carpi ulnaris, although it is not always present. Reviews report rates of absence in the general population ranging from 10–20%; h ...

and leaves the

Median nerve The median nerve is a nerve in humans and other animals in the upper limb. It is one of the five main nerves originating from the brachial plexus. The median nerve originates from the lateral and medial cords of the brachial plexus, and has cont ...

and

Radial artery In human anatomy, the radial artery is the main artery of the lateral aspect of the forearm. Structure The radial artery arises from the bifurcation of the brachial artery in the antecubital fossa. It runs distally on the anterior part of the ...

protected. Then the

Pronator quadratus muscle Pronator quadratus is a square-shaped muscle on the distal forearm that acts to pronate (turn so the palm faces downwards) the hand. Structure Its fibres run perpendicular to the direction of the arm, running from the most distal quarter of th ...

is found and detached from the

. Here a cut into the bone will find the abnormal epiphysis. When the epiphysis is clearly defined more bone is removed so the radius is in its normal position and prevents a new bone bar from forming. This is the end of the physiolisis. This is always combined with a Vickers Ligament release. ''Dome osteotomy'' Purpose of this treatment option is to straighten the abnormal radius. To do this, an 8 cm incision is made from the wrist crease at the palmair radial side. The approach is made passing the Flexor carpi radialis with detachment of the

from the radius. Now the Vickers ligament release is done. After this the

periosteum The periosteum is a membrane that covers the outer surface of all bones, except at the articular surfaces (i.e. the parts within a joint space) of long bones. (At the joints of long bones the bone's outer surface is lined with "articular cartila ...

is elevated and a crescent-shaped

osteotomy An osteotomy is a surgical operation whereby a bone is cut to shorten or lengthen it or to change its alignment. It is sometimes performed to correct a hallux valgus, or to straighten a bone that has healed crookedly following a fracture. It i ...

, concave at the end, is marked on the bone. Now the radius is cut dome shaped and straightened. The distal end of the radius stays attached to the

. The dome shape of the osteotomy allows adequate bony contact for stability and a subperiosteal void for rapid healing. ''Vickers Ligament Release'' This ligament causes the wrist to deform even more. The purpose of this release is to release the tension and leave the wrist straight in further growth. In both physiolysis and dome osteotomy there should be a clear view of the abnormal.

Adults

''Ulna reduction'' Adults with Madelung’s deformity may suffer from ulnar-sided wrist pain. Madelung's Deformity is usually treated by treating the distal radial deformity. However, if patients have a positive ulnar variance and focal wrist pathology, it’s possible to treat with an isolated ulnar-shortening osteotomy. In these patients the radial deformity is not treated. The ulna is approached from the subcutaneous border. A plate is attached to the distal end of the ulna, to plan the

. An oblique segment is removed from the ulna, after which the distal radial-ulnar joint is freed, making sure structures stay attached to the styloid process. After this, the freed distal end is reattached to the proximal ulna with the formerly mentioned plate. ''Total DRUJ replacement'' An alternative treatment for patients with ulnar-sided wristpain is a total replacement of the distal radial-ulnar joint. There are many surgical treatments of the condition, but most of these only improve the alignment and function of the radiocarpal joint. A persistent problem in these treatments has been the stiff DRUJ. However, a

prosthesis In medicine, a prosthesis (: prostheses; from ), or a prosthetic implant, is an artificial device that replaces a missing body part, which may be lost through physical trauma, disease, or a condition present at birth (Congenital, congenital disord ...

helps in managing the pain, and might also improve the

range of motion Range of motion (or ROM) is the linear or angular distance that a moving object may normally travel while properly attached to another. In biomechanics and strength training, ROM refers to the angular distance and direction a joint can move be ...

of the wrist. The procedure consists of making a hockey-stick shaped incision along the ulnar border. This incision is made between the fifth and sixth dorsal compartment. Being careful not to harm any essential structures, like the

posterior interosseous nerve The posterior interosseous nerve (or dorsal interosseous nerve/deep radial nerve) is a nerve in the forearm. It is the continuation of the deep branch of the radial nerve, after this has crossed the supinator muscle. It is considerably diminish ...

, the incision is continued between the extensor carpi ulnaris and the extensor digiti quinti, until the ulna is found. The ulnar head is then removed. A guide wire is then inserted in the medullary canal of the ulna, allowing centralization for a cannulated drill bit. A poly-ethylene ball, which will serve as the prosthesis, is then placed over the distal peg. After confirming full range of motion, the skin will be closed. ''Dome Osteotomy'' In case of Madelung's Deformity in conjunction with radial pain, a dome osteotomy may be conducted. For more information about this procedure, please refer to the treatment of Madelung's Deformity in children.

Eponym

It is named for Otto Wilhelm Madelung.O. W. Madelung. Die spontane Subluxation der Hand nach Vorne. Verhandlungen der deutschen Gesellschaft für Chirurgie, Berlin, 1878, 7: 259–276.

References

External links

{{Congenital malformations and deformations of musculoskeletal system Congenital disorders of musculoskeletal system