Pfeiffer Syndrome Type 1

📋Overview

Pfeiffer Syndrome Type 1 represents the classic form of this genetic disorder, often resulting from mutations in the FGFR1 or FGFR2 genes. This condition involves craniosynostosis, where the sutures of the skull close earlier than expected during development, leading to distinct craniofacial features.

The condition follows an autosomal dominant inheritance pattern and is characterized by specific skeletal findings alongside skull involvement. This subtype is distinguished from other forms of the syndrome by its specific genetic markers and clinical presentation.