Larsen syndrome

Disease Overview

Larsen syndrome is a disorder of the development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands, feet, and fingers, with square-shape finger tips. The X-rays usually show small extra bones in their wrists and ankles. Other features may include short stature, hypermobility, cleft palate, hearing loss, and an abnormal curvature of the spine that may result in weakness of the arms and/or legs and other complications. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene.[7312][7313][7314] Treatment depend on the problems that are present, and may include surgeries for hip dislocation, and/or to stabilize the spine, and/or to correct a cleft palate. Physiotherapy is indicated in most cases.[7312][7314]

There are several bone disorders that are caused by mutations in the FLNB gene.  Some are considered mild (spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome) and other are more severe (atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia).[7314]

Synonyms

• LRS
• Autosomal dominant Larsen syndrome