Larsen syndrome


From Wikipedia, the free encyclopedia

Larsen Syndrome (LS) is a rare autosomal dominant genetic disease that occurs in about every 1 in 100,000 people. Its symptoms include hypermobility, congenital dislocations, flattened face and cleft palate. The full descriptor of LS is Autosomal Dominant Larsen Syndrome. The condition was first described in a 1952 article by L. J. Larsen, et al.A similar syndrome, known as Desbuquois syndrome, has been mapped to different gene locus.

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
  • Other miscellaneous abnormalities



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