Achondroplasia is a rare, genetic condition that affects bone growth.
Achondroplasia is the most common type of skeletal dysplasia caused by a change in the FGFR3 (fibroblast growth factor receptor 3) gene, which slows bone growth, leading to disproportionate short stature.
Achondroplasia Prevalence
The genetic variants that cause achondroplasia can occur either by chance or from being passed down by a parent with the condition.
Most of the time, the variant occurs in families with no prior history of achondroplasia. In families where one parent has the condition, there is a 50% chance that the variant will be passed down to the child.
Chondrocytes are a type of cell responsible for bone and cartilage formation. They are essential for the development of the skeletal system.
Chondrocytes contain a type of protein called (FGFR3), which helps to slow bone growth.
In people with achondroplasia, FGFR3 becomes overactive, which reduces bone growth and leads to the common features of achondroplasia.
A Varied Journey for Individuals
Medical Complications
The way bones grow in people with achondroplasia can lead to specific medical complications and challenges. Multiple systems in the body can be affected and individuals may experience medical complications at different stages of life.2–4 Achondroplasia complications that may occur are shown in the table below.
Individuals with achondroplasia should have regular check-ups by an experienced, multidisciplinary healthcare team.4
Some complications may improve on their own, while others may require treatment or surgery. Some children may benefit from early intervention.4 Learning about the complications that may occur can help individuals and families feel prepared and get the care needed.
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