Deepa Kundargi1, K. N. V. Prasad2, Shilpa C3
Pfeiffer syndrome (PS) is a rare autosomal dominantly inherited disorder occurring in approximately 1:100,000 live births. Mutations of the fibroblast growth factor receptor 1(FGFR1) or FGFR2 gene can cause Pfeiffer syndrome. Craniosynostosis, brachycephaly, midfacial hypoplasia, broad deviated thumbs and great toes characterize the syndrome. Pfeiffer syndrome depending on severity of the phenotype is of three types. The types 2 and 3 occur as sporadic cases and have poor prognosis. We report a case of Pfeiffer Syndrome type 2 having polydactyly, which to the best of our knowledge is first case of such an association.
