Madelung Deformity

Madelung deformity is a rare congenital and developmental deformity of the wrist characterised by premature partial physeal arrest of the volar-ulnar aspect of the distal radial physis, leading to a characteristic triad of volar and ulnar bowing of the radius, dorsal subluxation of the distal ulna (prominent ulnar head), and carpal wedging (the proximal carpus adopts a triangular configuration between the radius and the dorsally subluxed ulna). It results in a characteristic cosmetic deformity as well as wrist pain, loss of forearm rotation, and reduced grip strength.

• Incidence: rare; estimated prevalence 1.7 per 100,000; female predominance (female:male ratio approximately 4:1); bilateral in approximately 50%; typically presents in adolescence during the pubertal growth spurt
• Most common cause: Léri-Weill dyschondrosteosis — a pseudoautosomal dominant condition caused by haploinsufficiency of the SHOX gene (short stature homeobox gene) on the X chromosome; bilateral Madelung deformity is a hallmark feature; Léri-Weill produces mesomelic shortening of the limbs (short forearms and legs) with Madelung deformity of the wrists; Turner syndrome (45,X) also causes Madelung deformity via SHOX haploinsufficiency
• Aetiology classification: idiopathic (isolated, no systemic cause), Léri-Weill dyschondrosteosis (most common systemic cause), Turner syndrome, post-traumatic physeal arrest (previous injury to the distal radial physis), hereditary multiple exostoses, and dysplastic conditions
• Vickers ligament: an anomalous ligament identified by Vickers running from the volar-ulnar aspect of the distal radius physis to the lunate; present in the majority of Madelung cases; it tethers the volar-ulnar physis and is thought to be the primary cause of the physeal arrest; its division (Vickers ligament release) is central to the physeal-sparing surgical correction

• Radiological triad: (1) volar and ulnar tilt of the distal radial articular surface; (2) dorsal subluxation of the distal ulna (ulnar head prominent on the dorsum of the wrist); (3) carpal wedging — the lunate is trapped in the V-shaped gap between the radius and the dorsally subluxed ulna; the proximal carpus has a triangular configuration on the AP radiograph
• Radiological features on AP wrist X-ray: increased ulnar inclination of the radial articular surface (>33°); decreased radial length; lucent triangular area in the metaphysis corresponding to physeal tethering; lunate in the "V" between radius and ulna
• Radiological features on lateral wrist X-ray: volar tilt of the radial articular surface (normal 11° — in Madelung, significantly increased); dorsal prominence of the ulna (positive ulnar variance in many cases)
• Clinical deformity: the distal forearm curves volarly (the wrist appears to "droop" volarly); the ulnar head is prominent dorsally; the hand is displaced volarly and radially relative to the forearm; limited forearm pronation and supination (particularly supination)

• Presentation: typically an adolescent girl presenting with progressive wrist deformity; dorsal ulnar prominence; wrist pain exacerbated by activity; reduced forearm rotation (supination most affected); reduced wrist extension; decreased grip strength
• Wrist motion: assess wrist flexion (often preserved or increased), extension (reduced), pronation and supination (supination most restricted)
• Pain: typically ulnar-sided wrist pain from DRUJ incongruity and carpal wedging; may have symptoms mimicking TFCC pathology
• Short stature: assess height and arm span — mesomelic shortening in Léri-Weill dyschondrosteosis; stature below the 25th centile with disproportionately short forearms and lower legs
• Family history: important — Léri-Weill is pseudoautosomal dominant; ask about similarly affected family members; refer to genetics if Léri-Weill suspected

• Weight-bearing AP and lateral wrist radiographs: define deformity magnitude; measure ulnar inclination, radial tilt, ulnar variance, and carpal wedging angle; serial X-rays assess progression during growth
• Bilateral wrist radiographs: bilateral disease is characteristic of Léri-Weill; bilateral assessment guides treatment planning
• MRI wrist: identifies the Vickers ligament; assesses physeal activity (important for surgical planning — physeal sparing procedures only appropriate while the physis is open); evaluates cartilage and TFCC
• SHOX gene testing: indicated in all suspected Léri-Weill cases; haploinsufficiency of SHOX on Xp22.3; testing by FISH or molecular genetics; Turner syndrome karyotype (45,X) also produces SHOX haploinsufficiency; identify systemic associations before surgery
• Bone age (left hand and wrist X-ray): assesses remaining growth — important for timing of physeal sparing surgery; also assesses skeletal maturity in short stature evaluation

Management depends on skeletal maturity, symptom severity, and the degree of deformity. Observation is appropriate for mild or asymptomatic cases. Surgery is considered for significant deformity, pain, or functional limitation.

• Vickers ligament release (physiolysis): the procedure of choice in skeletally immature patients; the abnormal volar-ulnar tether to the lunate is divided; the physis is then freed to grow normally; fat graft is packed into the physeal defect to prevent reformation of the tether; combined with radial corrective osteotomy if significant deformity already present; timing is critical — best results when physeal growth remains (at least 2 years of growth remaining)
• Non-operative management: wrist splinting and activity modification for pain; physiotherapy for ROM; no treatment alters the natural history of deformity progression without surgery; observation appropriate for mild cases approaching skeletal maturity

• Léri-Weill dyschondrosteosis systemic features: SHOX haploinsufficiency produces a phenotypic spectrum from isolated Madelung deformity to classic Léri-Weill (bilateral Madelung + mesomelic short stature) to the severe homozygous form (dyschondrosteosis — dwarfism with severe limb deformity); growth hormone therapy has been used in Léri-Weill to improve final height; multidisciplinary management with endocrinology and genetics is essential
• Turner syndrome and Madelung: approximately 50–70% of Turner syndrome patients have some degree of Madelung deformity; SHOX haploinsufficiency is the mechanism (one copy of SHOX absent with the missing X chromosome); wrist deformity may be the presenting feature of Turner syndrome; all girls with bilateral Madelung deformity should have karyotype analysis to exclude Turner syndrome
• Post-traumatic Madelung deformity: growth arrest of the volar-ulnar physis following distal radial physeal injury in childhood produces a similar deformity; management is similar to idiopathic Madelung; the history of prior trauma distinguishes this from genetic causes
• Corrective osteotomy in skeletal maturity: volar opening wedge osteotomy of the distal radius corrects the volar tilt and ulnar inclination; combined with ulnar shortening or Sauvé-Kapandji for DRUJ management; bone graft may be required for the opening wedge; internal fixation with a volar locking plate; significant improvement in grip strength and wrist motion reported

• Radiological triad: volar-ulnar radial tilt + dorsal ulnar head subluxation + carpal wedging (triangular proximal carpus with lunate in the V)
• Most common systemic cause: Léri-Weill dyschondrosteosis; SHOX haploinsufficiency on Xp22.3; bilateral Madelung + mesomelic shortening
• Turner syndrome: all girls with bilateral Madelung → karyotype to exclude 45,X; SHOX haploinsufficiency is the shared mechanism
• Vickers ligament: anomalous volar-ulnar ligament tethering the lunate to the radial physis; its release (physiolysis) is central to surgery in skeletally immature patients
• Physiolysis + fat graft: procedure of choice in skeletally immature patients; requires ≥2 years growth remaining; fat graft prevents physis retethering
• Female predominance (4:1); presents in adolescence; bilateral in 50%; supination most restricted motion
• Skeletally mature with deformity: corrective radial osteotomy ± Sauvé-Kapandji or Darrach for DRUJ; no physiolysis role after physis closes
• Léri-Weill homozygous: dyschondrosteosis — severe dwarfism; the worst end of the SHOX spectrum
• SHOX gene testing + bone age + bilateral wrist X-rays: essential investigation triad in suspected Madelung