Leri pleonosteosis

Leri pleonosteosis is a rare autosomal dominant genetic disorder that affects the skeletal system. It is characterized by unusual facial features, limited joint mobility, and short stature. The condition was first described by André Léri and J. Pleon in 1929.

Symptoms and Signs

The most common symptoms of Leri pleonosteosis include short stature, limited joint mobility, and unusual facial features. These facial features often include a broad nose, wide mouth, and thick lips. Other symptoms can include camptodactyly (permanent bending of the fingers or toes), brachydactyly (short fingers or toes), and syndactyly (webbed or fused fingers or toes).

Causes

Leri pleonosteosis is caused by mutations in the FLNB gene. This gene provides instructions for making a protein called filamin B, which helps build the network of protein filaments that gives structure to cells and allows them to change shape and move. Mutations in the FLNB gene disrupt the normal development of bones and other tissues, leading to the features of Leri pleonosteosis.

Diagnosis

Diagnosis of Leri pleonosteosis is based on physical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the FLNB gene.

Treatment

There is currently no cure for Leri pleonosteosis. Treatment is symptomatic and supportive, and may include physical therapy to improve joint mobility, and surgery to correct bone abnormalities.

See also

• List of genetic disorders
• List of rare diseases

References

Leri pleonosteosis Resources
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