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What is Cartilage-hair Hypoplasia?

  • Disorder of bone growth resulting in dwarfism (Skeletal Dysplasia)
  • Caused by mutations in the RMRP gene 
  • Occurrence is very rare however is thought to be 1 in 20,000 in Finland 
  • Average height of an adult is between 3 feet 4 inches and 5 feet

Diagnosis of Cartilage-hair Hypoplasia 

  • Before birth
    • Possibly via prenatal ultrasound due to short extremities
    • Genetic sampling if expected
  • After birth
    • X-ray findings
    • Observation of common physical characteristics 
    • Confirmation by DNA testing of the RMRP gene via a blood test

What are the common characteristics of Cartilage-hair Hypoplasia?

  • Short stature 
  • Shortened limbs
  • Joint hypermobility 
  • Often fine silky hair 
  • May have immunodeficiency
  • May have anemia 
  • May have gastrointestinal dysfunction
  • May have flaring of the lower chest
  • May have bowed legs

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

Other information about Cartilage-hair Hypoplasia

  • Life expectancy is not affected 
  • Intelligence is not affected
  • increased risk for malignancy
  • Can affect boys and girls equally 

Genetics of Cartilage-hair Hypoplasia 

  • Passed on by both parents (recessive)

Dwarfism Genetics CHH mutation recessive

Additional reading about Cartilage-hair Hypoplasia

 

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