What is Skeletal Dysplasia?
Skeletal dysplasias are a group of genetic conditions that affect the way bone and cartilage grows and develops. They can cause short stature, sometimes known as restricted growth or dwarfism. There are over 700 identified skeletal dysplasia; the most common one is achondroplasia.
Achondroplasia
The most common skeletal dysplasia with roughly in 25,000 births. It causes shorter limbs, a larger head and some distinct facial characteristics.
Childhood
Because many doctors have had little experience with achondroplasia, we've prepared a checklist you can take with you to appointments for your child. The checklist is based on the recommendations of UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia, published in Archives of Disease in Childhood in 2026.
Adolescence
As young people grow, they will gradually take over from their parents in speaking up for their own health. For the teenage years, the Achondroplasia & Adolescence guide (by an international council of patient groups including F.E.S.T., funded by BioMarin) helps families manage fatigue, pain and activity and supports young people to eventually take ownership for their own care.
Adulthood
Care in adulthood is much less joined up. Adults must be equipped with the knowledge they need to ensure warning signs for serious conditions like spinal stenosis and sleep apnoea are flagged early. This patient-held checklist from the European Achondroplasia Forum is designed to help adults raise the right questions with their GP or specialist and get the care they need.