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What is Hypochondroplasia?

  • A form of dwarfism (skeletal dysplasia)
  • Affects conversion of cartilage in to bone growth 
  • Caused by a mutation in the FGFR3 gene 
  • Incidence unknown, possibly as common as achondroplasia which occurs 1 in 15,000 to 40,000
  • Height for adult men ranges from 138 to 165 cm and adult women 128 to 151 cm

Diagnosis of Hypochondroplasia

  • Before birth by: 
    • Ultrasound scanning 
    • Testing methods e.g. Chronic villus sampling and DNA linkage studies. 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

What are the common characteristics of Hypochondroplasia? 

  • Shortened Limbs
  • Broad, short hands and feet
  • Large head
  • Limited range of motion in the elbow
  • Sway of the lower back (lordosis)
  • Bowed legs
  • Small percentage have mild to moderate learning problems

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

Other information about Hypochondroplasia

  • Life expectancy is not affected
  • Can affect boys and girls equally

Genetics of Hypochondroplasia

  • If there is no history of Hypochondroplasia in the family, Hypochondroplasia can be passed on by one parent (dominant) as the result of a mutation

Dwarfism Genetics Hypo mutation dominant

  • If one parent has Hypochondroplasia, there is a 50% chance Hypochondroplasia can be passed on to children

Dwarfism Genetics Hypo 1 parent affected dominant

Additional reading about Hypochondroplasia

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