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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.

 Dwarfism Genetics x linked recessive BOTH

  • 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

Dwarfism Genetics x linked recessive MOTHER

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

Dwarfism Genetics x linked recessive FATHER

Additional reading about X-linked Chondrodysplasia Punctata 1

 

 

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