Larsen Syndrome

Reference work entry

In 1950, Larsen et al. described a condition characterized by multiple large joint dislocations and flat face (Larsen et al. 1950). The condition occurs in approximately 1 in 100,000 births.

Synonyms and Related Disorders

Lethal Larsen-like syndrome; Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

Genetics/Basic Defects

  1. 1.
    Subtypes
    1. a.

      Sporadic form

       
    2. b.

      Autosomal dominant form

       
    3. c.

      Autosomal recessive form: clinical phenotype more debilitating with higher mortality than the autosomal dominant form

       
    4. d.

      Possible lethal form

       
     
  2. 2.

    The first known gene mutated in Larsen syndrome, LAR1, for autosomal dominant form: mapped to 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.

     
  3. 3.
    Clinical similarities between Larsen syndrome and a group of lethal osteochondrodysplasias including atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia suggested that they represent an allelic series of conditions (Hunter...

Keywords

Cervical Spine Cleft Palate Ossification Center Mitral Valve Prolapse Joint Dislocation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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