Larsen syndrome

Larsen syndrome is a very rare syndrome with hyperlaxity (hypermobility) of joints and ligaments characterized immediately after birth:
 * face changes – flattening of the face, widened and flattened root of the nose, wide-set eyes, hypertelorism
 * multiple joint dislocations – mainly dislocation of the knee joints
 * cervical hyperkyphosis – there is a risk of damage to the spinal cord

Patogenesis

 * generalized mesenchymal disorder
 * autosomally inherited form is caused by a mutation of the FLNB gene on chromosome 3 (3p14.3)

Clinical picture

 * changes in the face, flattening of the nose
 * hyperextension of the lower limbs, rigid bilateral pes equinovarus, hip joints bilaterally luxated and highly mobile (due to significant joint laxity), flexion contracture of the elbow
 * typical hand changes – long fingers mount on short metacarpals, distal joint of thumb blade-shaped
 * spinal changes – cervical kyphosis with progressive instability, more distally kyphoscoliosis
 * congenital defects of the heart, aorta, trachea, larynx
 * normal intelligence

Therapy

 * prevent cervical spinal cord compression by posterior fusion
 * surgical (or conservative) treatment of luxation of knee joints, hip joints and finally pes equinovarus

Related articles

 * Achondroplasia
 * Diastrophic dwarfism
 * Thanatophoric dwarfism
 * Congenital limb defects
 * Developmental hip dysplasia
 * Pes equinovarus congenitus
 * Congenital developmental defects