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References OMIM Gene GeneReviews HGMD HGNC
last update : 18/07/2006
Symbol CRS7A
Location 8p11.22
Name craniosynostosis, syndromatic 7
Other name(s) Pfeiffer syndrome
Corresponding gene FGFR1
Other symbol(s) CRS7, PFS
Main clinical features
  • with characteristic broad thumbs and big toes, proximal phalanx of the thumb was either triangular or trapezoid (and occasionally fused with the distal phalanx) so that the thumb pointed outward and variability of expression, with form associated to cloverleafskull
  • Genetic determination autosomal dominant
    Related entries . including case of Jackson-Weiss syndrome (OMIM123150), manifesting only mild craniofacial anomalies with a Pro252Arg mutation observed in Pfeiffer syndrome, and Noack syndrome
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name fibroblast growth factor receptor 1 (FGFR1)
    Gene mutationChromosome rearrangementEffectComments
    unknown     Pro 252Arg mutation, through an enhancement of FGF binding