Larsen syndrome

Hands of a person with Larsen syndrome

Larsen syndrome is a rare genetic disorder characterized by multiple joint dislocations, distinctive facial features, and other skeletal and developmental abnormalities. It was first described by Dr. Loren J. Larsen in 1950.

Presentation

Individuals with Larsen syndrome typically present with congenital joint dislocations, particularly affecting the knees, hips, and elbows. Other common features include:

• Flattened facial appearance
• Prominent forehead
• Depressed nasal bridge
• Wide-spaced eyes (hypertelorism)
• Cleft palate
• Short stature
• Spinal abnormalities, such as scoliosis or kyphosis
• Clubfoot (talipes equinovarus)

Genetics

Larsen syndrome is most commonly inherited in an autosomal dominant manner, although autosomal recessive forms have also been reported. Mutations in the FLNB gene, which encodes the protein filamin B, are responsible for the majority of cases. Filamin B plays a crucial role in the development and maintenance of the skeletal system.

Diagnosis

Diagnosis of Larsen syndrome is based on clinical evaluation, family history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the FLNB gene.

Management

Management of Larsen syndrome is multidisciplinary and may involve:

• Orthopedic interventions to address joint dislocations and spinal deformities
• Physical therapy to improve mobility and muscle strength
• Surgical correction of cleft palate and other craniofacial abnormalities
• Regular monitoring for potential complications, such as respiratory issues due to spinal deformities

Prognosis

The prognosis for individuals with Larsen syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and interventions, many individuals can lead relatively normal lives.

Related Pages

• Joint dislocation
• Scoliosis
• Kyphosis
• Cleft palate
• Autosomal dominant
• Autosomal recessive
• FLNB