Achondroplasia

Achondroplasia is a common genetic disorder, characterized by impaired growth and skeletal malformations. It is the most common type of skeletal dysplasia, affecting about one in 25,000 people, and is caused by mutations in a gene called FGFR3. People with achondroplasia have abnormally short stature and disproportionately short limbs. Common complications of achondroplasia include symptoms such as recurrent ear infections, obstructive sleep apnea, and spinal stenosis. Early diagnosis and specialized treatment of achondroplasia can help reduce the risk of complications and improve quality of life.