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 characterised 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.
- 1. Kozlowski K, Robertson F, Middleton R. Radiographic findings in Larsen's syndrome. Australas Radiol. 1974;18 (3): 336-44. - Pubmed citation
- 2. Laville JM, Lakermance P, Limouzy F. Larsen's syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop. 14 (1): 63-73. - Pubmed citation
- 3. Daldrup-Link HE, Gooding CA. Essentials of Pediatric Radiology, A Multimodality Approach. Cambridge Univ Pr. (2010) ISBN:0521515211. Read it at Google Books - Find it at Amazon
- 4. Bissonnette B, Dalens BJ. Syndromes, rapid recognition and perioperative implications. McGraw-Hill Professional. (2006) ISBN:0071354557. Read it at Google Books - Find it at Amazon
- 5. Albright AL, Adelson PD, Pollack IF. Principles and practice of pediatric neurosurgery. Thieme Medical Pub. (2007) ISBN:1588903958. Read it at Google Books - Find it at Amazon
- 6. Tongsong T, Wanapirak C, Pongsatha S et-al. Prenatal sonographic diagnosis of Larsen syndrome. J Ultrasound Med. 2000;19 (6): 419-21. J Ultrasound Med (citation) - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Larsen syndrome (LS)||✗|
|Multiple congenital dislocation syndrome||✓|