Pfeiffer Syndrome: Rare Craniofacial Disorder—Prevalence and Facts
Pfeiffer syndrome is a rare autosomal-dominant craniosynostosis syndrome (FGFR1/2 mutations). Estimated prevalence: 1 in 100,000–150,000 live births (a few thousand individuals worldwide).
Features: bicoronal synostosis, midface hypoplasia, broad thumbs/great toes, variable syndactyly. Multidisciplinary care (neurosurgery, craniofacial, ENT, genetics) optimizes outcomes.
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