Achondroplasia is a type of dwarfism, which is part of a larger category of conditions called skeletal dysplasias, or disorders of bone and cartilage development. Achondroplasia is caused by pathogenic variants in the FGFR3 gene. Two specific variants in FGFR3 cause almost all cases. All individuals with achondroplasia have short stature, usually with an average-sized trunk and short arms and legs and limited range of motion at the elbows. Other signs and symptoms include an enlarged head, episodes in which breathing slows or stops for brief periods (apnea), obesity, and recurrent ear infections. Affected individuals usually develop a sway of the lower back (lordosis) and bowed legs in childhood and may also develop abnormal forward rounding of the back (kyphosis) and back pain.
Rare but potentially serious complications of achondroplasia include spinal stenosis, a narrowing of the spinal canal that can compress the spinal cord and cause pain, tingling, and difficulty walking; and hydrocephalus, which is a buildup of fluid in the brain that can cause increased head size and brain abnormalities. Treatments can help to alleviate symptoms and some patients elect to utilize growth hormone or undergo surgery to increase height. No cure exists for achondroplasia.
The latest on our research
We are jumpstarting our achondroplasia program to accelerate research on the disorder to ultimately improve treatment options. We welcome all patients and caregivers interested in participating and spreading the word to the achondroplasia community.