A type of bone malformation associated with both SHOX and SHOXY genes mutations.
Usually characterized by malformed wrists and wrist bones, accompanied by short stature and is often associated with Léri-Weill dyschondrosteosis.
Leri-Weill dyschondrosteosis is a pseudoautosomal dominant disorder which occurs more frequently in females and is due to a mutation, deletion or duplication of the SHOX gene.
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 of the X chromosome, which escapes X-inactivation.
Homozygous SHOX gene mutations result in Langer mesomelic dysplasia.
The deformity of the wrist is caused by a growth disturbance in the epiphysial growth plate in the distal radius resulting in a volar placed slope of the lunate facet and scaphoid facet.
The above produces volar translation of the hand and wrist.
The ulna grows straight resulting in a dorsally prominent distal ulna.
The process occurs predominantly in adolescent females who present with pain, decreased range of motion, and osseous deformity.
Often has a genetic etiology and is associated with mesomelic dwarfism and a mutation on the X chromosome.
The deformity can be treated surgically by altering the deformed bone and ligamentous lesions called Vickers Ligament.
The Vickers Ligament is an abnormal ligament formed between the lunate bone of the wrist and the radius and is found in 91% of cases of Madelung’s Deformity.
Due to malformation of the bones congenital subluxation or dislocation of the ulna’s distal end occurs.
The structural 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., and even congenital absence or hypoplasia of the radius.
The male:female ratio is 1:4.
The incidence is unknown.
No racial predominance exists.
Considered a congenital disorder.
In most cases, symptoms have their onset during midchildhood, when the relatively slower growth of the ulnar and palmar part of the radius, leads to an increasingly progressive deformity.
Main symptoms are pain and deformity.
Typical presentation pf patients are short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm.
Treatment is conservative, with rest and NSAID’s.
A splint or brace can be used to keep the deviated arm straight.
Surgical treatment is to remove the epiphysis that causes the abnormal growth of the wrist, and to straighten the abnormal radius.
Vickers ligament release lowers the tension and leaves the wrist straight in further growth.
Adults may suffer from ulnar-sided wrist pain.
Usually treated by treating the distal radial deformity.
An alternative treatment for ulnar-sided wristpain is a total replacement of the distal radial-ulnar joint.