Pfeiffer described families with a syndrome of craniosynostosis and other anomalies. Subsequently various types have been described, with the classic form termed Type 1.


Synonym: Pfeiffer-type acrocephalosyndactyly


Inheritance: autosomal dominant or sporadic


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) craniosynostosis

(2) midface deficiency

(3) broad thumbs and/or great toes

(4) brachydactyly

(5) normal or near normal intelligence


Variable findings:

(1) syndactyly

(2) anomalies of the cervical vertebrae

(3) hearing loss


Classic Pfeiffer syndrome is associated with a good outcome.


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