Apert Syndrome

In craniosynostosis syndromes, one or more bones of the skull and face fuse prematurely during fetal development. The skull is composed of multiple bones separated by sutures, or openings. If any of these close too early, the skull will expand in the direction of the open sutures, resulting in an abnormal head shape.

Premature closure of a single suture can be caused by space constraints in the womb, and is seen more often in twins than in a single fetus. Single suture closure usually isn't associated with a syndrome. Premature closure of multiple sutures, however, is often seen in children with a craniosynostosis syndrome.

In children with a craniosynostosis syndrome, bones that fuse prematurely in the skull result in abnormal head shapes. Bones in the face may also be fused together, resulting in a flat midface and protruding eyes.

The most common craniosynostosis syndromes are Crouzon, Pfeiffer and Apert.

  • Apert syndrome affects about one of every 100,000 births and varies less from case to case than Crouson and Pfeiffer. Children with this syndrome also have syndactyly, or webbing, of the hands and feet.

Children with Apert, Crouzon and Pfeiffer syndrome usually have premature fusion of at least the coronal suture, an opening that extends across the top of the skull. Other sutures may also close.

These conditions are caused by genetic mutations in genes known as fibroblast growth factor receptor (FGFR) genes. They are autosomal dominant conditions, meaning a parent with the syndrome has a 50 percent chance of passing it on to each child.

Reviewed by health care specialists at UCSF Benioff Children's Hospital.