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
- If one parent has Achondroplasia, there is a 50% chance Achondroplasia can be passed on to children
- If both parents have Achondroplasia, there is a 50% chance Achondroplasia can be passed on to children
Reference information about Achondroplasia
- PCHR insert for Achondroplasia
- Growth Charts - Girls
- Growth Charts - Boys
- Development chart
Additional reading about Achondroplasia
- Genetics Home Reference - Achondroplasia
- GeneReviews - NCBI Bookshelf - Achondroplasia
- National Organisation for Rare Disorders (NORD) - Achondroplasia
- LPA Online - Achondroplasia
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*