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What is X-linked Chondrodysplasia Punctata 2?

  • A form of dwarfism (skeletal dysplasia)
  • Affects bone, skin and eye abnormalities 
  • Caused by mutation in EBP gene
  • Estimated to affect fewer than 1 in 400,000

Diagnosis of X-linked Chondrodysplasia Punctata 2

  • After birth
    • Presence of clinical findings
    • Observation of physical characteristics 

What are the common characteristics of X-linked Chondrodysplasia Punctata 2? 

  • Short stature
  • Shortening of bones in upper arms and thighs different on either side of the body  
  • Stippling on x-rays (spots near ends of bones and in cartilage) 
    • Long bones in arm and legs
    • Ribs
    • Vertebrae (spine)
    • Trachea
  • Distinctive facial features 
  • Flattened nose
  • Flat nasal bridge
  • Progressive Kyphoscoliosis
  • Abnormal skin patches 
  • scaly skin (Ichthyosis) in various ‘patterns’
  • abnormally coloured with no hair (follicular atrophoderma)
  • Clouded lens of the eye (cataract)
  • Potential other eye abnormalities 
  • Distinctive facial features 

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

Other information about X-linked Chondrodysplasia Punctata 2

  • Occurs mostly in females
  • Affected males are extremely rare

Genetics of X-linked Chondrodysplasia Punctata 2

  • X-linked Chondrodysplasia Punctata 2 is passed on an X-linked dominant pattern. 
  • Different occurence depending on whether Mother or Father is affected. 

Dwarfism Genetics x linked dominant MOTHER


Dwarfism Genetics x linked dominant FATHER


Additional reading about X-linked Chondrodysplasia Punctata 2

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