Pseudoachondroplasia (PSACH) is a rare bone growth disorder – a skeletal dysplasia (aka dwarfing condition) – that affects between 1 in 50,000 – 300,000 people (exact prevalence is unknown). Diagnosis is often delayed, as physical features and growth are normal in the first year or two of life and radiological features are identified only after around one year of age.
Those affected by pseudoachondroplasia may experience limited range of motion at the elbows and hips and early-onset joint pain (osteoarthritis). Joint pain during childhood, particularly hips and knees is common. Many individuals experience significant joint pain throughout their life and undergo multiple orthopedic surgeries and joint replacements. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood. People with pseudoachondroplasia have normal facial features, head size, and intelligence.
Pseudoachondroplasia is a genetic disorder, caused by mutations in the COMP (cartilage oligomeric matrix protein) gene. In more than 70% of families, the COMP mutation occurs as a new event in the family. In some cases, an affected person does inherit the mutation from an affected parent.
Learn more about dwarfism.
We are relying on donations from generous individuals like you to fund the research necessary to make progress toward improving the lives of children and adults living with pseudoachondroplasia. Please make a tax-deductible donation today. Our goal for this year is $300,000. Any amount you give will help and is certain to make a difference.