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What is Rhizomelic Chondrodysplasia Punctata?

  • A form of dwarfism (skeletal dysplasia)
  • A result on inefficient enzyme activity
  • Can be caused by a mutation in the PEX7, GNPAT, AGPS gene
  • Affects fewer than 1 in 100,000

Diagnosis of Rhizomelic Chondrodysplasia Punctata

  • After birth
    • Enzyme assay
    • Genetic testing
    • Presence of clinical findings
    • Observation of physical characteristics 

What are the common characteristics of Rhizomelic Chondrodysplasia Punctata? 

  • Short stature
  • Shortening of upper arms and thighs
  • Joint deformities 
  • Distinct facial features
  • Clouding of the lens of the eye (cataracts) 
  • Delayed intellectual development
  • Respiratory issues

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

Other information about Rhizomelic Chondrodysplasia Punctata

  • Life expectancy is affected
  • Intelligence is affected
  • Can affect boys and girls

Genetics of Rhizomelic Chondrodysplasia Punctata

  • If there is no history of Rhizomelic Chondrodysplasia Punctata in the family, Rhizomelic Chondrodysplasia Punctata is passed on by both parents (recessive) as the result of a mutation.

Dwarfism Genetics Rhizomelic Chondrodysplasia Punctata mutation recessive

Additional reading about Rhizomelic Chondrodysplasia Punctata

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