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What is Léri-Weill Dyschondrosteosis? 

  • A form of dwarfism
  • Affects bone growth 
  • Incidence unknown
  • Seemingly more common in girls
  • Mutation of the SHOX gene
  • Dominant inheritance pattern

Diagnosis of Léri-Weill Dyschondrosteosis 

  • After birth by:
    • Observation of common physical characteristics
    • X-rays
    • Molecular genetic testing 

What are common characteristics of Léri-Weill Dyschondrosteosis?

  • Short stature 
  • Shortening of lower limbs
  • Abnormality of wrist
  • Sometimes underdevelopment of jaw 
  • Increased muscle mass
  • Bowing of lower leg 
  • Greater angling of elbow from body
  • High arched palate

*Please be aware, not all of the characteristics may be present*

Other information about Léri-Weill Dyschondrosteosis

  • Life expectancy is not affected
  • Intelligence is not affected
  • Can affect boys and girls, more prevalent in girls
  • Similar to Langer Mesomelic Dysplasia

Genetics of Léri-Weill Dyschondrosteosis

  • Autosomal recessive pattern

Dwarfism Genetics Léri Weill Dyschondrosteosis mutation DOMINANT

Additional reading about Léri-Weill Dyschondrosteosis

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