Pfeiffer syndrome (also known as type V acrocephalosyndactyly) is characterized by skull and limb abnormalities.
It affects about 1 in 100,000 births
Pfeiffer syndrome is strongly associated with mutations of the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10.
- type 1: classic Pfeiffer; most individuals have normal intelligence and lifespan. Inherited in an autosomal dominant pattern.
- type 2: includes a cloverleaf skull (Kleeblattschädel); occurs sporadically and has a poor prognosis with severe neurological compromise.
- type 3: includes craniosynostosis and severe proptosis; occurs sporadically and has poor prognosis.
History and etymology
It was first described by Rudolph Arthur Pfeiffer in 1964.
Consider other forms of acrocephalosyndactyly such as
- 1. Lee MY, Jeon GW, Jung JM, Sin JB. A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene. (2010) Korean journal of pediatrics. 53 (7): 774-7. doi:10.3345/kjp.2010.53.7.774 - Pubmed
- 2. Park MS, Yoo JE, Chung J, Yoon SH. A case of Pfeiffer syndrome. (2006) Journal of Korean medical science. 21 (2): 374-8. doi:10.3346/jkms.2006.21.2.374 - Pubmed