Pfeiffer syndrome

Disease Overview

Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems. Other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. It is caused by mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. Pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features.[3388] Management typically includes various surgical interventions.[3389]

Synonyms

• ACS5
• Pfeiffer type acrocephalosyndactyly
• Acrocephalosyndactyly, type 5
• Acrocephalosyndactyly type 5
• Noack syndrome
• ACSV
• Craniofacial-skeletal-dermatologic syndrome
• Craniofacial-skeletal-dermatologic dysplasia