How is achondroplasia diagnosed?

Achondroplasia is diagnosed following a comprehensive evaluation by a healthcare professional with expertise in skeletal dysplasias. The diagnostic process includes a detailed clinical assessment, radiological imaging and genetic testing.

1. Clinical evaluation: A specialist will conduct a thorough physical examination to assess characteristic features of achondroplasia. These include disproportionate short stature, shortened upper limbs, a prominent forehead and spinal curvature. The presence of joint hypermobility and ligament laxity may also be evaluated for.

2. Radiological assessment: X-rays are performed to examine skeletal abnormalities, which can include shortened long bones and specific changes in the shape of the pelvis, skull and vertebrae.

3. Genetic testing: Genetic testing can be performed to identify pathogenic (disease-causing) variants in the FGFR3 gene.