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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