Madelung deformity is due to premature closure or defective development of the ulnar third of the distal epiphysis of the radius. This deformity results in a radial shaft that is bowed with increased interosseous space and dorsal subluxation of the distal radioulnar joint.
It can be bilateral in 50-66% of patients. It often occurs as rare congenital deformity and does not usually manifest until 10-14 years. It may also be seen as an acquired consequence of trauma to the growth plate, e.g. Salter Harris fracture (type V). The congenital form has an autosomal dominant inheritance with a variable penetrance.
Madelung deformity should not be confused with Madelung-Launois-Bensaude syndrome, also referred as Madelung disease, which is characterised by lipomatous accumulation in the subcutaneous regions of the neck, upper thorax and upper limbs 6.
The abnormality is more common in females.
Most non-traumatic cases of Madelung deformity present with progressive deformity during late childhood or early adolescence 3. Presentation is with deformity, decreased grip strength and often with pain in the wrist relating to ulnocarpal impaction 1,3.
The common mechanism for all causes of Madelung deformity is premature closure or failure of development of the ulnar side of the distal radial physis. There is an arrest of epiphyseal growth of the medial and volar (anterior) portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. The underlying cause of this is unclear, with possibilities including 3:
- vascular insufficiency
- infection (osteomyelitis)
- muscular disorders
- Leri-Weill syndrome: an autosomal dominant dyschondrosteosis (a form of mesomelic dwarfism)
- Turner syndrome: affects wrists and hands with osteopenia, metacarpal bones shortening (especially 4th) and decreased carpal angles, which resemble Madelung deformities (usually bilateral)
- Madelung dyschondrosteosis
- gonadal dysgenesis
- nail-patella syndrome 5
- diaphyseal aclasis (hereditary multiple exostosis)
- Hurler mucopolysaccharidosis 1
- achondroplasia 1
- Ollier disease 1
The deformity is characterised by:
- dorsal and radial bowing of the radius
- exaggerated palmar (up to 35°) and ulnar tilt (up to 60°) of the radiocarpal articulation 3
- failure of ossification of the ulnar side of the distal radial epiphysis
- exaggerated radial inclination
- decreased carpal angle below 118°; normal from 118° to 139°.
- carpal subluxation in a palmar and ulnar direction
- lunate is gradually forced to the apex of the V-shaped radioulnarcarpal joint
- “V-shaped” proximal carpal row = herniated proximal carpal row.
- dorsal subluxation of the distal radio-ulnar joint
- positive ulnar variance
- wedging of the carpus between the radius and ulna
Treatment and prognosis
Many treatments have been proposed and tried, often with limited success. Conservative measures tend to be ineffective. Surgical options include 3:
- radial epiphysiodesis
- radial corrective osteotomy
- radial physiolysis
- ulnar epiphysiodesis
- excision of the distal ulnar
- ulnar shortening osteotomy
- distal radius and ulnar trauma can cause Madelung deformity when distal radius medial joint fuses with the ulna while the lateral joint space continues to grow. This is seen especially when the physis is still open.
- can cause abnormal fusion of the distal radial and ulnar growth plates, The Madelung deformity occurs when distal radius medial joint fuses with the ulna while the lateral joint space continues to grow.
- in females with a 45/XO.
- other hand findings are osteopenia, metacarpal shortening (especially 4th metacarpal) and decreased carpal angles which resemble Madelung deformities
- usually bilateral
- skeletal dysplasia.
History and etymology
Madelung deformity was first described in 1878 by Otto Wilhelm Madelung, German surgeon (1846-1926) 4.
- 1. Lovell WW, Winter RB, Morrissy RT et-al. Lovell and Winter's pediatric orthopaedics. Lippincott Williams & Wilkins. (2006) ISBN:0781753589. Read it at Google Books - Find it at Amazon
- 2. Henry A, Thorburn MJ. Madelung's deformity. A clinical and cytogenetic study. J Bone Joint Surg Br. 1967;49 (1): 66-73. J Bone Joint Surg Br (abstract) - Pubmed citation
- 3. Yang JH, Sohn YH, Ko SY et-al. Anthropological analysis of Koreans using HLA class II diversity among East Asians. 2010;doi:10.1111/j.1399-0039.2010.01511.x - Pubmed citation
- 4. O. W. Madelung "Die spontane Subluxation der Hand nach Vorne." Verhandlungen der deutschen Gesellschaft für Chirurgie, Berlin, 1878, 7: 259-276.
- 5. Golding JS, Blackburne JS. Madelung's disease of the wrist and dyschondrosteosis. J Bone Joint Surg Br. 1976;58 (3): 350-2. J Bone Joint Surg Br (abstract) - Pubmed citation
- 6. Murphey MD, Carroll JF, Flemming DJ et-al. From the archives of the AFIP: benign musculoskeletal lipomatous lesions. Radiographics. 24 (5): 1433-66. doi:10.1148/rg.245045120 - Pubmed citation