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Autosomal dominant Larsen syndrome

Orpha number ORPHA503
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q68.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Larsen syndrome (LS) is a rare genetic disorder characterized by congenital dislocation of numerous joints, joint hypermobility and distinctive facial features (flat nasal bridge, hypertelorism and occasionally cleft palate). Respiratory problems due to lack of rigidity of the upper airways may occur. LS occurs in about one in 100,000 births. Over 40 affected children have been reported in the Reunion island (incidence of 1/1500 births). LS may be inherited as an autosomal dominant or autosomal recessive trait. Mutations in the FLNB gene (localized to 3p14.3), which encodes filamin B, are responsible for the dominant form and probably a few sporadic cases. Management should be adapted to each patient and may involve orthopedic treatment, multi-staged surgical procedures, oxygen or assisted breathing, speech therapy and physiotherapy.

Expert reviewer(s)

  • Dr Martine LE MERRER
Last update: May 2006

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Detailed information
Clinical genetics review
  • EN (2008)
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