Pfeiffer described families with a syndrome of craniosynostosis and other anomalies. Subsequently additional types were described.


Inheritance: sporadic


Gene affected: fibroblastic growth factor receptor 1 (FGFR1) or fibroblastic growth factor 2 (FGFR2)


Chromosome: 8p11.22-p12 (FGFR1) or 10q25-q26 (FGFR2)


Cranial Finding

Type 2

cloverleaf skull

Type 3



Common clinical findings:

(1) severe neurologic problems

(2) elbow synostosis/ankylosis

(3) broad thumbs and/or great toes

(4) brachydactyly

(5) ocular proptosis

(6) shortening of the cranial base


Variable findings:

(1) syndactyly

(2) visceral anomalies, especially in Type 3


Pfeiffer syndrome Types 2 and 3 are associated with a poor prognosis. Aggressive management can improve survival.


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