Pfeiffer described families with a syndrome of craniosynostosis and other anomalies. Subsequently additional types were described.
Gene affected: fibroblastic growth factor receptor 1 (FGFR1) or fibroblastic growth factor 2 (FGFR2)
Chromosome: 8p11.22-p12 (FGFR1) or 10q25-q26 (FGFR2)
Common clinical findings:
(1) severe neurologic problems
(2) elbow synostosis/ankylosis
(3) broad thumbs and/or great toes
(5) ocular proptosis
(6) shortening of the cranial base
(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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