What is X-linked Chondrodysplasia Punctata 1?

• A form of dwarfism (skeletal dysplasia)
• Affect cartilage and bone development
• Caused by alteration in ARSE gene
• Incidence unknown

Diagnosis of X-linked Chondrodysplasia Punctata 1

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

What are the common characteristics of X-linked Chondrodysplasia Punctata 1? 

• Short stature
• Short finger tips and end of toes 
• Stippling on x-rays (spots near ends of bones and in cartilage) 
  • Ankles 
  • Toes 
  • Fingers
  • Can occur in other bones
• Distinctive facial features 
  • Flattened nose
  • Flat nasal bridge
• Potential Spinal Stenosis
• Potential heart defect
• Hearing and vision abnormalities

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

Other information about X-linked Chondrodysplasia Punctata 1

• Males are mostly affected 
• Affected females are extremely rare

Genetics of X-linked Chondrodysplasia Punctata 1

• X-linked Chondrodysplasia Punctata 1 is passed on in an X-linked recessive pattern. In males one altered X chromosome can result in X-linked Chondrodysplasia Punctata 1, in females two altered X chromosomes are needed to result in X-linked Chondrodysplasia Punctata 1.

• If mother is a carrier and father is not, children affected is dependent on the gender of the child: 
  • Male children has 50% chance of having X-linked Chondrodysplasia Punctata 1
  • Female children has 50% of being a carrier of X-linked Chondrodysplasia Punctata 1

• If father has X-linked Chondrodysplasia Punctata 1 and mother is not a carrier:
  • Male children will be unaffected 
  • Female children will be carriers 

Additional reading about X-linked Chondrodysplasia Punctata 1

• Genetic Home Reference - X-linked Chondrodysplasia Punctata 1X-linked Chondrodysplasia Punctata 1 
• GeneReviews - NCBI - X-linked Chondrodysplasia Punctata 1X-linked Chondrodysplasia Punctata 1
• Rare Disease - X-linked Chondrodysplasia Punctata 1