Pfeiffer Syndrome (Acrocephalosyndactyly type 5)
also see Craniosynostosis

• "Pfeiffer has a pet tree frog"
• Autosomal dominant; FGFR1 and FGFR2 genes
• Main features: craniosynostosis, broad thumbs and great toes (vs apert "mitten hand", and variable soft tissue syndactyly
• Prominent widely spaced eyes
• Coronal sutures usually affected (Like Crouzon), but a clover-leaf skull can also be seen.
• Facies resemble Crouzon syndrome
• Type 1: Classic form
• Type 2: clover-leaf skull with ankylosis of elbows
• Type 3: like type 2, but has severe proptosis, and NO clover leaf skull

For boards, ddx Apert Syndrome, Crouzon Syndrome

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes