Apert syndrome

Apert syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), leading to an abnormal shape of the head and face. It is caused by mutations in the FGFR2 gene and typically inherited in an autosomal dominant pattern. Common features include syndactyly (fusion of fingers and toes), a high-arched or cleft palate, and potential developmental delays. Early diagnosis and a multidisciplinary approach, including surgical interventions, can improve quality of life and address physical and functional challenges.

Here is the structure of Apert syndrome of 11 years old boy. The structure was obtained by data segmentation and is quite large – 144 MB. As it is standard size of the skull, you can use smaller printer but it is recommended to use better resolution printing to illustrate all the details