Larsen syndrome

Larsen syndrome (LS), also called Autosomal Dominant Larsen syndrome, is a rare autosomal dominant congenital disorder that occurs in about every 1 in 100,000 people. Its symptoms include hypermobility, congenital dislocations, brachycephaly and cleft palate.

The condition was first described in a 1950 journal report by L. J. Larsen, et al.

Genetics


Larsen syndrome is caused by mutations in the FLNB (Filamin B) gene.

Symptoms
A more complete list of symptoms includes:
 * Multiple joint dislocations
 * Foot deformities
 * Non-tapering, cylindrical shaped fingers
 * Unusual facial appearance
 * Less commonly occurring:
 * Short stature
 * Additional skeletal abnormalities
 * Cleft palate
 * Heart defects
 * Hearing impairment
 * Mental retardation