Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia.
The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.
It is characterized by many features including:
- joint hypermobility
- multiple congenital dislocations (typically knees)
- characteristic facies
- cleft palate
- club feet
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.
- Spondyloepimetaphysäre Dysplasie
- Frontometaphysäre Dysplasie
- Angeborene Luxation
- Oto-palato-digitales Syndrom Typ 1