Pfeiffer syndrome

Also known as: Acrocephalopolysyndactyly type V

Craniosynostosis with broad thumbs and great toes.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric neurosurgery
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: FGFR1, FGFR2

Etiology & mechanism

Activating FGFR1 or FGFR2 mutations.

Gene(s) involved (2)

FGFR1FGFR2

Symptoms & signs (6)

broad great toesbroad thumbscraniosynostosishydrocephalusmidface hypoplasiaproptosis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.