Fibular dimelia-diplopodia syndrome

Fibular dimelia-diplopodia syndrome is an extremely rare congenital limb malformation characterized by duplication (dimelia) of the fibula and duplication of the foot (diplopodia), typically with absence or severe hypoplasia of the tibia. In this condition, the lower leg contains two fibulae instead of the normal tibia-fibula pair, and the foot may be duplicated or contain extra rays (polydactyly), resulting in a mirror-image or near-mirror-image appearance of the lower limb. The condition is also referred to as fibular duplication with diplopodia or mirror foot with fibular dimelia. The syndrome primarily affects the musculoskeletal system of the lower extremities. Clinical features may include absence of the tibia, presence of two fibulae in the leg, mirror-image duplication of the foot with supernumerary toes, and significant functional impairment of the affected limb. The knee joint may be abnormal or unstable due to the absence of the tibia. The condition is typically unilateral but bilateral cases have been reported. Associated anomalies of the upper limbs or other organ systems are generally not a prominent feature, though each case may vary. Treatment is primarily surgical and is tailored to the individual patient's anatomy and functional needs. Surgical options may include reconstruction of the limb, removal of duplicated structures, centralization procedures to improve limb alignment, and in severe cases, amputation with prosthetic fitting. Early orthopedic evaluation is essential to plan the most appropriate management strategy. There is no known cure, and management focuses on optimizing mobility and function. Given the extreme rarity of this condition, management is best guided by multidisciplinary teams experienced in complex limb malformations.

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