Cousin Syndromes

Pfeiffer Syndrome: Prevalence of 1 in 100,000 individuals


The cousins of Pfeiffer Syndrome: All have mutations in the FGFR1 and FGFR2 genes

  • Apert Syndrome: 1 in 160,000
  • Crouzon Syndrome: 1 in 62,500
  • Jackson Weiss: Rare (incidence unknown)
  • Beare Stevenson Cutis Gyrata Syndrome: Fewer than 20 world wide
  • Muenke Syndrome: 1 in 30,000
  • Antley-Bixler Syndrome: Less than 1 in 100,000
  • Osteoglophonic Dysplasia: Only 15 cases have ever been reported in medical literature
  • Autosomal Dominant Kallmann Syndrome: 1 in 10,000 – 86,000
  • Saethre-Chotzen Syndrome: 1 in 25,000 – 50,000, has to do with the TWIST1 gene which regulates FGFR2 gene


Chromosomal Aberrations involving FGFR1 and FGFR2 genes

  • Myeloproliferative Disorder
  • Stem Cell Leukemia
  • Breast Cancer
  • Ovarian Cancer
  • Prostate Cancer


Diseases not related to FGFR1 or FGFR2, but with similar characteristics

  • Pierre Robin: 1 in 8,500 – 14,000, not known if it is indirectly related to FGFR1 or FGFR2
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