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Autosomal dominant Larsen syndrome

Disease definition

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.

ORPHA:503

  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q74.8
  • OMIM: 150250
  • UMLS: C0175778  C2931648
  • MeSH: -
  • GARD: 6860
  • MedDRA: -

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