Larsen syndrome

Larsen syndrome

Hands of a patient with Larsen syndrome

Legs of a patient with 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

Links

Related articles

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

Used literature

• DUNGL, P.. Ortopedie. 1. edition. Grada Publishing, 2005. ISBN 80-247-0550-8.