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
- Prominent widely spaced eyes
- Coronal sutures usually
affected (Like Crouzon), but a clover-leaf skull can also be seen.
- 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
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes