Leri pleonosteosis

Leri pleonosteosis (also known as Léri syndrome or pleonosteosis of Léri) is an extremely rare hereditary skeletal disorder characterized by broadening and thickening of bones, particularly the phalanges, metacarpals, and metatarsals. The condition primarily affects the musculoskeletal system and is distinguished by generalized limitation of joint mobility, short and broad hands and feet (brachydactyly), and thickened palmar and forearm fascia. Patients typically present with stiff joints, particularly affecting the fingers and toes, and may develop flexion contractures. Mongolian facies with a broad, flattened face has been described in some cases. Enlargement of the posterior neural arches of the vertebrae and thickening of the forearm bones may also occur. Short stature is a common feature. Additional clinical features may include carpal tunnel syndrome due to thickened connective tissue compressing the median nerve, genu recurvatum (hyperextension of the knees), and limited range of motion in the elbows, wrists, and interphalangeal joints. The condition is progressive, with joint stiffness and skeletal changes becoming more apparent over time. Radiographic findings typically show broadened and shortened tubular bones with cortical thickening. There is no specific curative treatment for Leri pleonosteosis. Management is symptomatic and supportive, focusing on physical therapy to maintain joint mobility and surgical intervention when necessary, such as carpal tunnel release for nerve compression. Orthopedic management may be required for significant contractures or skeletal deformities. Genetic counseling is recommended for affected families given the hereditary nature of the condition.

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

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Common questions about Leri pleonosteosis