Larsen syndrome

Larsen syndrome is a rare skeletal disorder that affects the development of bones and joints. It is characterized by congenital dislocation of large joints and distinctive facial features. Many people with this condition may have abnormalities in the cervical spine and other parts of the skeletal system. In addition to joint dislocations, individuals often show foot deformities, a curved spine (scoliosis), and uniquely shaped bones in the fingers (spatula-shaped distal phalanges). There may also be craniofacial abnormalities, such as a cleft palate, that contribute to the overall presentation of the condition.

Common symptoms of Larsen syndrome include congenital dislocation of large joints, foot deformities, cervical spine dysplasia, and scoliosis. People with this disorder may also display unique bone shapes in their hands and craniofacial differences such as cleft palate.

Larsen syndrome is associated with changes in the FLNB gene. These gene variations lead to the condition being inherited in an autosomal dominant pattern. This means that a change in just one copy of the gene can lead to the development of the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and potential future directions is currently limited for this condition.