Pfeiffer syndrome is also a member of the craniosynostosis syndromes, presenting with a degree of phenotypic variability. Common features include craniosynostosis and typical skeletal malformations of the extremities (hands and feet), such as broad thumbs, broad toes, generalized brachydactyly and possible syndactyly.
Like all other syndromes in this group, it is an autosomal dominant disorder, caused by mutations mainly in the FGFR1 and FGFR2 genes. Advanced paternal age has been shown clinically to be associated with de novo mutations for Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, Beare-Stevenson syndrome and Muenke syndrome. In any case, prenatal diagnosis for most craniosynostosis syndromes is not very common and is a sensitive issue, since the disorders are treatable through appropriate corrective surgery.
We perform automated bi-directional fluorescent DNA sequencing of exon 7 of the FGFR1 gene and exons 8 and 10 of the FGFR2 gene, allowing for the detection of more than 80-85% of pathological mutations for the disorder.