Craniosynostosis Syndromes
Signs and Symptoms

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.

• Pfeiffer syndrome is the most common of the three, affecting about one of every 25,000 births, and its severity varies.
• Crouzon syndrome occurs in about one of every 100,000 births, and also varies considerably in severity.
• 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.
Last updated May 16, 2012