How do you test for apert syndrome?

Apert syndrome is typically diagnosed through a combination of clinical evaluation and genetic testing. Clinicians assess physical features such as craniOSynostosis (premature fusion of skull bones), syndactyly (fusion of fingers and toes), and other characteristic anomalies. Genetic testing can confirm the diagnosis by identifying mutations in the FGFR2 or FGFR1 genes, which are commonly associated with the syndrome. Imaging studies, like X-rays or CT scans, may also be used to evaluate skeletal anomalies.