Larsen syndrome

Larsen syndrome
OMIM	150250 245600
DiseasesDB	32807

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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 has an autosomal dominant pattern of inheritance.

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

See also

• Boomerang dysplasia

External links

• Cedars-Sinai Entry
• WebMD Abstract