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)
Type
|
Cranial Finding
|
Type 2
|
cloverleaf skull
|
Type 3
|
craniosynostosis
|
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.