Madelung Deformity - Abnormality at the Wrist Joint

Introduction

Madelung deformity is a rare congenital deformity that leads to abnormal growth of the wrists and part of the radius. As a result, one of the bones in the forearms is short and bowed, and the other grows continuously, causing dislocation. The dislocation causes a prominent bump. It is common in female teenagers. They present with decreased range of motion, pain, and deformity. Madelung deformity is often genetically associated with a mutation in the X chromosome and mesomelic dwarfism. Madelung deformity is managed by surgically correcting the deformities.

What Are the Functional Changes That Occur in Madelung Deformity?

One-third of Madelung deformity cases are caused because of autosomal dominant inheritance. Madelung deformity has female predilection, where 50 % of cases are bilateral. Instances of members affected by the same family have been reported. Madelung deformity has a chromosomal association with individuals having turner syndrome (karyotype XO). Molecular genetic studies showed an association between Madelung deformity, dyschondrosteosis, and the missing X chromosome in Turner syndrome.

A genetic marker was established that linked to the pseudoautosomal region of the X and Y chromosomes. Families with short stature dysplasia deletions and a premature stop codon were seen in the homeobox-containing gene, which segregated the marker in band Xp22. in addition, an ample number of cases reported showed SHOX gene mutation in individuals with dyschondrosteosis and Madelung deformity. Families with SHOX gene mutation with a history of Madelung deformity and individuals with Turner syndrome (mostly hemizygous individuals) exhibit variable expression of Madelung deformity and dyschondrosteosis.

What Is the Cause of Madelung Deformity?

Henry and Thorburn classification for Madelung deformity:

• Dysplastic.

• Post-traumatic.

• Chromosomal or genetic (Turner syndrome).

• Idiopathic or primary.

Post-traumatic Madelung deformity is caused secondary to repetitive trauma or following an event that deranges the growth of the distal radial, ulnar volar physis.

Madelung deformity is seen in association with the following bone dysplasia:

• Ollier disease.

• Achondroplasia.

• Multiple hereditary osteochondromatosis.

• Multiple epiphyseal dysplasias.

• Mucopolysaccharidoses (morquio and hurler syndromes).

Secondary causes that mimic wrist deformities in Madelung deformity involve:

• Sickle cell disease.

• Tumor.

• Rickets.

• Infection.

The most significant type of dysplasia associated with Madelung deformity is dyschondrosteosis. Leri and Weill, in 1929, first described the association of dyschondrosteosis with Madelung deformity.

Dyschondrosteosis is a type of mesomelic dwarfism, and the affected individual will have signs and symptoms such as:

• Variable short stature.

• Short forearms.

• Tibial fibular shortening.

• If the height is less than the 25th percentile, the radius is 75% of the length of the humerus, with the tibia being 85% of the length of the femur.

• Forearm shortening is bilateral and appears identical to primary Madelung deformity.

• A proximal radius is involved.

Dyschondrosteosis shows clinical presentation in adolescents.

What Is the Clinical Presentation of Madelung Deformity?

Madelung deformity symptoms appear during adolescents in girls from 10 to 14 years old. Females rarely have symptoms when younger than 8 to 9 years. Madelung deformity is rarely seen in men. Individuals experience increased deformity and pain in the wrist with a reduced range of motion. Physical examination detects the hand being translated volar to the long axis of the forearm. The ulna is usually unaffected, adjoins the carpus, and is seen as prominent in the carpus and hand. Range of motion is reduced, with a limitation of dorsiflexion, supination, and radial deviation. Flexion and pronation is normal.

What Is the Evaluation for Madelung Deformity?

The diagnosis is confirmed with posteroanterior and lateral radiographic images of the forearm.

Radiograph criteria, as given by Dannenberg et al., involve:

• Lateral and dorsal curvature of the radius.

• Widened intraosseous space.

• True shortening of the total length of the radius.

• Premature fusion of the ulnar half of distal radial physis.

• Focal osteopenia at the ulnar portion of the distal radius

• Exostosis of the distal ulnar border of the radius.

• Triangularisation of the distal radius epiphysis.

• Ulnar and palmar facing distal radial epiphysis.

• Relative dorsal subluxation of the ulna.

• Increased radiodensity of the ulnar head.

• Carpal wedging at the apex of the wedge.

• Arched curvature of the carpal bones in continuation with the dorsal bowing of the radius.

Threshold values given by McCarroll et al. involve:

• Ulnar tilt is equal to or greater than 33 degrees.

• Lunate subsidence greater than or equal to 4 mm.

• Lunar fossa angle greater than or equal to 40 degrees.

• Palmar carpal displacement greater than or equal to 20 mm.

What Is the Treatment and Management for Madelung Deformity?

Operative treatment for Madelung deformity involves pain relief and cosmetic improvement. Range of motion shows improvement occasionally, especially in pronation and supination. Skeletally immature individuals are treated by releasing the ligament (Vickers ligament) or in combination with osteotomy.

In skeletally mature individuals, the treatment is based on the congruency of the distal radioulnar joint and the radiocarpal joint. Osteotomy is indicated in cases that will result in a secondary congruous joint. If the congruous secondary joint cannot be obtained, radioscaphocapitate arthrodesis, darrach, or sauve kapandji is performed.

1) Nonoperative Therapy:

Nonoperative therapy is done in mild to moderate cases and skeletally mature individuals. If the distal radioulnar joint causes the pain, then a sugar tong type splint may reduce overactivity and relieve joint irritation. A volar splint is used for radiocarpal pain. In skeletally immature individuals, the pain is caused by the Vickers ligament, and splinting will not give desired results.

2) Surgical Modalities:

The surgical approach is based on the following approach:

• Individuals’ age and growth remain in the distal radius.

• The severity of the deformity.

• The severity of the symptoms.

• Clinical and radiographic findings.

Operative treatment is further divided into:

• Procedures that correct the primary deformity of the radius.

• Procedures that reduce pain and help in increasing the range of motion with a compensatory change in the ulna.

• Procedures that involve both.

Approach for deformity in the radius:

• Procedures that bring about changes in the anatomy or growth at the physis.

• Procedures that bring about changes in the bony anatomy of the metaphysis.

• Salvage-type common sacrificing procedures.

The techniques involve:

• Vickers physiolysis.

• Radial osteotomy.

• Radioulnar length adjustment.

Conclusion

Madelung deformity is a rare congenital deformity that leads to abnormal growth of the wrists and part of the radius. Having a rare disease may be overwhelming to the affected individual as well as the family. Therefore, discussing the treatment approaches with the healthcare provider is essential.