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 The carpal bones are the eight small bones that make up the wrist (or carpus) that connects the hand to the forearm. The term "carpus" is derived from the Latin carpus and the Greek καρπός (karpós), meaning "wrist". In human anatomy, th ...

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 Otto Wilhelm Madelung (May 15, 1846 – July 22, 1926) was a German surgeon who was a native of Gotha Gotha () is the fifth-largest city in Thuringia, Germany, west of Erfurt and east of Eisenach with a population of 44,000. The city is the c ...

(1846–1926), a German surgeon, who described it in detail, it was noted by others.

Guillaume Dupuytren Baron Guillaume Dupuytren (; 5 October 1777 – 8 February 1835) was a French anatomist and military surgeon. Although he gained much esteem for treating Napoleon Bonaparte's hemorrhoids, he is best known today for his description of 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, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...

subluxation A subluxation is an incomplete or partial dislocation of a joint or organ. According to the World Health Organization (WHO), a subluxation is a "significant structural displacement", and is therefore always visible on static imaging studies, su ...

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 ...

of the

ulna The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of t ...

'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) of a circle or sphere is any of the line segments from its center to its perimeter, and in more modern usage, it is also their length. The name comes from the latin ''radius'', meaning ray but also the ...

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 (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...

, 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 effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

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 and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsuffi ...

. 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, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes. The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found for humans) are inherited j ...

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. Mo ...

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 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 The epiphysis () is the rounded end of a long bone, at its joint with adjacent bone(s). Between the epiphysis and diaphysis (the long midsection of the long bone) lies the metaphysis, including the epiphyseal plate (growth plate). At the ...

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 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 contr ...

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 th ...

protected. Then the Pronator quadratus muscle 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 Pronator quadratus muscle 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. Endosteum lines the inner surface of the medullary cavity of all long bones. Struc ...

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 is ...

, 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 (plural: prostheses; from grc, πρόσθεσις, prósthesis, addition, application, attachment), or a prosthetic implant, is an artificial device that replaces a missing body part, which may be lost through trau ...

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. It is also called range of travel (or ROT), particularly when talking about mechanical devices and in mechanic ...

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) 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 diminished in size compared ...

, the incision is continued between the

extensor carpi ulnaris In human anatomy, the extensor carpi ulnaris is a skeletal muscle located on the ulnar side of the forearm. The extensor carpi ulnaris acts to extend and adduct at the carpus/wrist from anatomical position. Being an extensor muscle, extensor carp ...

and the

extensor digiti quinti The extensor digiti minimi (extensor digiti quinti proprius) is a slender muscle of the forearm The forearm is the region of the upper limb between the elbow and the wrist. The term forearm is used in anatomy to distinguish it from the arm, a w ...

, until the ulna is found. The ulnar head is then removed. A guide wire is then inserted in the

medullary canal The medullary cavity (''medulla'', innermost part) is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored; hence, the medullary cavity is also known as the marrow cavity. Located in the ma ...

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

.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