Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, 
broadening of the thumbs and great toes, and partial soft tissue syndactyly of 
the hands and feet. Three clinical subtypes have been classified mainly for the 
purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be 
associated with the syndrome. However, the correlation between genotype and 
phenotype is not well defined. Only one patient with Pfeiffer syndrome with no 
other clinical information has been reported to have had an A344P mutation of 
the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome 
type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in 
FGFR2. Identification of the clinical features and molecular defects in more 
patients is required to better correlate the genotype and phenotype of this 
complex syndrome.