What Is Pfeiffer Syndrome?
Pfeiffer syndrome is a genetic condition affecting the skull, face, and limbs. Here is an overview.
Pfeiffer syndrome is caused by mutations in the FGFR1 or FGFR2 gene and is characterized by craniosynostosis (early skull fusion), midface hypoplasia, and broad thumbs and toes.
- Types:
- Type 1: Classic form, normal intelligence, good outcomes
- Type 2: More severe, cloverleaf skull, eye problems
- Type 3: Severe without cloverleaf skull
- Key features:
- Craniosynostosis (coronal sutures most common)
- Underdeveloped midface
- Bulging, widely spaced eyes
- Beaked nose
- Broad, deviated thumbs and big toes
- Possible hearing loss
- Treatment:
- Skull surgery in infancy
- Midface advancement in childhood
- Hand and foot surgery as needed
- Orthodontics
- Hearing management
Clinical Guidance
Pfeiffer syndrome involves skull, face, and limb differences. Early cranial surgery and ongoing multidisciplinary care provide excellent outcomes for most children, especially Type 1.