Larsen syndrome

Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia.

Epidemiology

The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.

Clinical presentation

It is characterised by many features including:

Pathology

Genetics

There can be significant genetic heterogeneity. It is usually inherited as an autosomal dominant fashion while some autosomal recessive forms have also been described. The autosomal dominant form of Larsen syndrome is thought to be due to mutations in a gene called LAR1, on the short arm of chromosome 3.

History and etymology

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

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Article Information

rID: 14624
Section: Syndromes
Tags: cases, syndrome
Synonyms or Alternate Spellings:
  • Larsen's syndrome
  • Larsen syndrome (LS)
  • Multiple congenital dislocation syndrome
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