Pediatrics · Pediatrics / Pediatric neurosurgery
Pfeiffer syndrome
also: Acrocephalopolysyndactyly type V
Craniosynostosis with broad thumbs and great toes.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric neurosurgery
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- FGFR1, FGFR2
- Alternative names & eponyms
- Acrocephalopolysyndactyly type V
Etiology & mechanism
Activating FGFR1 or FGFR2 mutations.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Pfeiffer syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
4 shared
Crouzon syndrome
craniosynostosis, hydrocephalus, midface hypoplasia, proptosis
3 shared
Apert syndrome
craniosynostosis, midface hypoplasia, proptosis
2 shared
Rubinstein–Taybi syndrome
broad great toes, broad thumbs
2 shared
Shprintzen–Goldberg syndrome
craniosynostosis, hydrocephalus
1 shared
Cobalamin C syndrome
hydrocephalus
1 shared
Dandy–Walker malformation
hydrocephalus
1 shared
Hereditary spastic paraplegia type 1
hydrocephalus
1 shared
Lhermitte–Duclos syndrome
hydrocephalus
1 shared
Loeys–Dietz syndrome
craniosynostosis
1 shared
Mucopolysaccharidosis type I with neurological involvement
hydrocephalus
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