Rare Genetic Diseases: Pfeiffer Syndrome

Pfeiffer syndrome is characterized by premature fusion of certain skull bones (craniosynostosis). This prevents the normal growth of the skull and causes deformation of the face. Around 1:100,000 individuals are affected by the disorder.

Furthermore, individuals might suffer from hearing loss and dental problems. Unusually short fingers and toes (brachydactyly) are also common. Due to the unusual growth of the skull, affected individuals have characteristically bulging eyes, high forehead, underdeveloped upper jaw and beaked nose.

Three types of Pfeiffer syndrome have been discovered. Type 1, also known as classic Pfeiffer syndrome, includes all the characteristic symptoms. Patients with type 1 syndrome achieve normal intelligence and have a long life span. Type 2 and Type 3 include problems with the nervous system. Moreover, individuals have limited brain growth and delayed development, and die at an early age. Type 2 can be distinguished from type 3 by a cloverleaf shaped head.

The mutation causing Pfeiffer syndrome is located on the FGFR2 gene and can be inherited in an autosomal dominant pattern. FGFR2 provides instructions for making proteins known as fibroblast growth factor receptors 1 and 2. Among others, these proteins signal immature cells to become bone cells during embryonic development. The prolonged signalling, induced by the genetic mutation, promotes the premature fusion of the skull bones.

Currently, there is no curative treatment for Pfeiffer syndrome. However, the fusion of the skull can be corrected with several surgeries in the first three months of life.