Pfeifer Syndrome is a genetic disorder marked by the premature fusion of the skull bones (craniosynostosis) The early fusion prevents the skull from growing normally and hence it influences the shape of the head and face. There three types described.

  1.  Type 1 is the classic syndrome which has all the features described below. Individuals with Type 1 have normal intelligence and a normal span of life.
  2. Type 2 and Type 3 are more severe conditions with problems of the nervous system and delayed mental development. Type 2 is characterized by cloverleaf shaped head which is caused by extensive fusion of the skull bones.

This condition affects 1 in 100 000 children.

Features

  1. Facial features .
    1. Bulging and wide set eyes
    2. High forehead
    3. Under developed upper jaw
    4. Beaked nose
    5. Dental problems
  2. Hearing loss in at least 50 % of all children affected by this condition
  3. Vision problems
  4. Limb anomalies
    1. Thumbs and the big toes are wide and bend away from other digits on the hands and feet
    2. Unusually short fingers and toes ( brachydactyly)
    3. Webbing or fusion of digits (syndactyly)

Cause

There is no link between what the mother did or did not do during the pregnancy. Instead, Pfeiffer syndrome is caused by a mutation (change) in the gene for the fibroblast growth factor receptor (FGFR 1 or 2). The FGFR genes play an important role in signaling a cell to divide or mature. A malfunction of this gene may therefore cause premature fusion of the bones of the skull, fingers or toes. Some studies show that Pfeiffer syndrome occurs more often in children with older fathers.

Intervention

The care of children with Pfeiffer syndrome can involve many, complex surgeries which are best managed by a multidisciplinary craniofacial team. This team is composed of a neurosurgeon, plastic surgeon, dentist, orthodontist, audiologist, speech pathologist, otolaryngologist, geneticist and pediatrician. Team members should work closely to determine the best treatment plan.