Madelung Deformity

Updated: Jun 22, 2023
  • Author: Paul M Lamberti, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Overview

Practice Essentials

Madelung deformity (MD) of the wrist is characterized by a growth disturbance in the volar-ulnar distal radial physis that results in a volar and ulnar tilted distal radial articular surface, volar translation of the hand and wrist, and a dorsally prominent distal ulna. [1, 2]  It occurs predominantly in adolescent females who present with pain, decreased range of motion (ROM), and deformity. MD often has a genetic etiology and is associated with mesomelic dwarfism and a mutation on the X chromosome.

Nonoperative management may be helpful in skeletally mature individuals with MD and mild-to-moderate short-term wrist pain. In contrast, the younger and skeletally immature patient with clear evidence of MD has pain that is caused by the tension within the Vickers ligament, and splinting most likely will not have a satisfactory result. (See Treatment.)

Operative treatment of Madelung deformity (MD) is indicated for pain relief and cosmetic improvement. No specific contraindications for surgery exist other than those associated with any elective surgical procedure. Operative treatment can be divided into three broad categories as follows:

  • Procedures that correct the primary deformity of the radius
  • Procedures that attempt to decrease pain and increase ROM by making a compensatory change in the ulna
  • Procedures that address both
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Anatomy

An important anatomic consideration in MD is the normal position of the distal radial articular surface. The following four features of this articular surface should be noticed radiographically:

  • Radial inclination - This is the angle formed by a line from the distal radioulnar joint (DRUJ) to the radial styloid and a line perpendicular to the shaft of the radius through the lunate fossa; it is normally 21-23°
  • Radial length - This is the difference in longitudinal level between the lunate fossa and the radial styloid; it is normally 12-15 mm
  • Volar tilt - This is measured on a lateral radiograph and is the angle formed between a line perpendicular to the radial shaft and a line through the dorsal and volar rims of the radial joint surface; normally, it is 10-15°
  • Ulnar variance - This is the relative difference in height between the radial and ulnar distal articular surfaces; these should be level with each other
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Pathophysiology

One third of cases of MD are transmitted in an autosomal dominant fashion. The condition has a variable expression and 50% penetrance. MD is bilateral in 50% of cases and is primarily found in females. A number of affected kindreds of patients with MD have been described. Numerous cases of multiple patients with MD within families have been reported. [3, 4] One report detailed five generations of family members with bilateral MD without signs of dyschondrosteosis.

Finally, a primary chromosomal association with MD has been observed in patients with Turner syndrome (karyotype XO). MD was the presenting sign of Turner syndrome in one young girl, while Henry and Thorburn diagnosed Turner syndrome incidentally when studying a series of patients with MD who underwent cytogenetic evaluation. [5]

Molecular genetic studies clarified the association of the female predominant MD, dyschondrosteosis, and the missing X chromosome in Turner syndrome. The idea that an X chromosomal translocation caused dyschondrosteosis was first proposed in 1985. An X chromosomal translocation also was found to be associated with MD in 1997.

In 1998, groups from London, England, and Switzerland established a marker that was linked to the pseudoautosomal region (PAR1) of the X and Y chromosomes. Within families affected by a short stature dysplasia, the groups found deletions and a premature stop codon (exon 4) in the short stature homeobox-containing gene, SHOX, that segregated the marker in band Xp22. [6]

In 2000, another group reported that the SHOX gene mutation was found in patients with dyschondrosteosis and MD in multiple cases. Families with this mutation and individuals with Turner syndrome (both essentially hemizygous individuals for the SHOX gene) and families with a history of MD have been shown to exhibit a variable expression of MD and dyschondrosteosis. This variability indicates that a modifier gene on another area of the X chromosome or on an autosomal gene most likely is involved also. [7] The interaction of the SHOX locus with other genes and transcription factors is not known. The SHOX mutation continues to be the subject of many studies. [8, 9]

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Etiology

Henry and Thorburn classified MD into the following four etiologic groups [5] :

  • Posttraumatic
  • Dysplastic
  • Chromosomal or genetic (Turner syndrome)
  • Idiopathic or primary

Posttraumatic MD has been found following repetitive trauma or following a single event that disrupts growth of the distal radial ulnar-volar physis. Bone dysplasias associated with MD include the following:

  • Multiple hereditary osteochondromatosis
  • Ollier disease
  • Achondroplasia
  • Multiple epiphyseal dysplasias
  • Mucopolysaccharidoses (eg, Hurler and Morquio syndromes)

Secondary causes of wrist deformity that may mimic MD include the following:

The most important dysplasia associated with MD, however, is dyschondrosteosis. [10, 11, 12, 13]

Dyschondrosteosis is a form of mesomelic dwarfism associated with MD that was first described by Leri and Weill in 1929. It is characterized by variable short stature, short forearms, and tibial/fibular shortening. Specifically, height is less than the 25th percentile, the radius is 75% of the length of the humerus, and the tibia is 85% of the length of the femur. Dyschondrosteosis becomes more clinically pronounced during adolescence. No other abnormalities are commonly associated with it.

Forearm shortening in dyschondrosteosis tends to be bilateral and appears almost identical to that in primary MD, except that the proximal radius is involved in patients with dyschondrosteosis (see the first image below), and the proximal radius is not involved in primary MD (see the second and third images below). Both dyschondrosteosis and MD are transmitted in an autosomal dominant fashion with a female predominance. [14]

Lateral radiograph of elbow of patient A, depictin Lateral radiograph of elbow of patient A, depicting a dysplastic proximal radius. This is characteristic of dyschondrosteosis.
Preoperative anteroposterior radiograph of wrist o Preoperative anteroposterior radiograph of wrist of patient B. This patient has primary Madelung deformity (no sign of dyschondrosteosis).
Preoperative lateral radiograph of wrist of patien Preoperative lateral radiograph of wrist of patient B. The flame-shaped radiolucency in the metaphysis of the radius is occupied by the fibrocartilaginous Vickers ligament.

With such a similarity between primary MD and Leri-Weill dyschondrosteosis, the reason why many authors have described them as a single entity is apparent. However, many children with unilateral and bilateral MD have normal stature and no other characteristic of dyschondrosteosis. Therefore, it is reasonable to describe primary MD as a separate, albeit related, condition.

To differentiate primary MD from dyschondrosteosis, Felman and Kirkpatrick suggested the following criteria [15] : Primary MD can be defined as occurring in a child above the 25th percentile in height with no family history of dyschondrosteosis and no history of other secondary causes. Conversely, a patient who is shorter than 5 ft (~1.5 m) at skeletal maturity, has proximal involvement of the radius, and has a relatively short tibia and fibula may have mesomelic dwarfism.

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Epidemiology

Several hundred cases of MD have been presented in the literature since its first description. However, no published reports exist on the actual frequency of MD in the population. [16]

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Prognosis

Goals for surgical correction of MD consist primarily of pain relief and correction of the cosmetic deformity. A secondary goal is to increase ROM. Most patients who undergo biplane osteotomy with ulnar length adjustment or the crescentic radial osteotomy of Carter and Ezaki attain both primary goals. [17] Usually, ROM is, at best, only moderately improved. It should be noted that pain relief can be substantial and can be achieved quickly following release of the volar Vickers ligament.

In a retrospective review, Del Core et al evaluated long-term clinical and radiographic outcomes after Vickers ligament release and distal radial physiolysis in a small group of skeletally immature patients (N = 6; 8 wrists) with symptomatic MD. [18]  At 1 year of clinical follow-up, seven of the eight wrists were pain-free, and six were completely pain-free at final follow-up. Motion in flexion, extension, pronation, supination, radial, or ulnar deviation was similar between preoperative status and status on long-term follow-up. At the final follow-up, two patients had undergone a subsequent procedure (one radial dome osteotomy and one ulnar-shortening osteotomy).

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