Pfeiffer syndrome

Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face.

Signs and symptoms

  • Premature fusion of the skull bones (craniosynostosis)
  • Eyes that appear to bulge (proptosis)
  • Eyes are wide-set (hypertelorism)
  • An underdeveloped upper jaw (maxillary hypoplasia)

Cause
Pfeiffer syndrome is strongly associated with mutations of the fibroblast growth factor receptor 1 (FGFR1) on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10.

Management

The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. Later surgeries are necessary to correct respiratory and facial deformities

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