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Achondroplasia

What is Achondroplasia?

  • A form of dwarfism (skeletal dysplasia)
  • Affects bone growth
  • Can be caused by a mutation in the FGFR3 gene
  • Can be inherited from parents who also have achondroplasia
  • Occurrence is 1 in every 15,000 to 40,000
  • Average height of an adult male is 131 cm and an adult female is 124 cm

Diagnosis of Achondroplasia

  • Before birth by: 
    • Ultrasound scanning 
    • Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis. 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays
    • Sequencing of the FGFR-3 gene.

What are the common characteristics? 

  • Short stature
  • Short arms and legs (particularly short upper arms and thighs)
  • Limited range of movement in elbows
  • Trident hand (i.e. ring finger and middle finger may diverge)
  • Macrocephaly (enlarged head with prominent forehead)
  • Midfacial retrusion and depressed nasal bridge
  • Exaggerated lumbar lordosis

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

Other information about Achondroplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Considered the most common form of dwarfism
  • Can affect boys and girls equally

Genetics of Achondroplasia

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

Dwarfism Genetics Achon mutation dominant

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

Dwarfism Genetics Achon 1 parent affected dominant

  • If both parents have Achondroplasia, there is a 50% chance Achondroplasia can be passed on to children

Dwarfism Genetics Achon 2 parents affected dominant

Reference information about Achondroplasia

 

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