Madelung's deformity

Madelung's deformity
Classification and external resources
Madelung deformation, a type of bone malformation associated with both SHOX and SHOXY genes mutations.
ICD-10	Q74.0
ICD-9	755.54 (CDC/BPA 755.526)
OMIM	127300
DiseasesDB	32115
eMedicine	orthoped/513

Madelung's deformity is usually characterized by malformed wrists and wrist bones and short stature and is often associated with Léri-Weill dyschondrosteosis. It has only been recognized within the past hundred years.

Genetics

It occurs due to a genetically recessive gene called the SHOX gene.

Along with Léri-Weill dyschondrosteosis, it is associated with a mutation on the pseudoautosomal region.^[1]

Pathogenesis

Madelung deformity of the wrist is produced by a growth disturbance in the inferior volar part of the epiphysial growth plate in the distal radius that results in the radius growing curved in the volar direction producing 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 etiology and is associated with mesomelic dwarfism and a mutation on the X chromosome. The deformity can be treated surgically by addressing the deforming bony and ligamentous lesions, correcting the abnormal position of the radial articular surface, and equalizing the longitudinal levels of the distal radius and ulna

Presentation

It is a congenital subluxation or dislocation of the ulna's lower 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 lower end of the radius with upward displacement of the lower 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.

Treatment

The operation consists of excision of the lower end of the ulna; in severe cases of marked radial deviation, it may also be necessary to fuse the radius to the carpus in order to gain correction. Madelung deformity can cause limited rotation of the wrist, chronic pain or pain after any activity involving the wrist, and limited strength.

Eponym

It is named for Otto Wilhelm Madelung.^[2][3]

References

Further Internet Resources on Madelung's Deformity [1]