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What is Meier-Gorlin Syndrome?

  • A form of dwarfism
  • Prevalence unknown, considered rare
  • Occurs as a result of mutation in the ORC1, ORC4, ORC6, CDT1 and CDC6 gene

Diagnosis of Meier-Gorlin Syndrome

  • After birth by:
    • Historical records
    • Observation of common physical characteristics 
    • Laboratory test results 

What are common characteristics of Meier-Gorlin syndrome?

  • Short stature
  • Underdeveloped/missing kneecaps 
  • Small ears 
  • Small head size
  • Unusually long bones in arms and legs
  • Deformity of the knee going (genu recurvatum)
  • Slowed mineralization of bones 
  • Identifiable facial features e.g. low set ears, small mouth (microstomia) underdeveloped lower jaw (mircrognathia) narrow nose and full lips

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

Other information about Meier-Gorlin Syndrome

  • Intelligence is considered average
  • Life expectancy depends on severity of condition
  • Can affect boys and girls equally

Genetics of Meier-Gorlin Syndrome

  • Autosomal recessive pattern

Dwarfism Genetics Meier Gorlin syndrome mutation recessive

Additional reading about Meier-Gorlin Syndrome

*Little People UK are not responsible for external website*

Other organisations supporting Meier-Gorlin Syndrome

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