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GENATLAS PHENOTYPE
last update : 11/04/2006
Symbol CRS7B
Location 10q26.13
Name craniosynostosis, syndromatic 7B
Other name(s) Pfeiffer syndrome
Corresponding gene FGFR2
Other symbol(s) 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
Function/system disorder osteo-articular
congenital malformation
Type disease
Gene product
Name fibroblast growth factor receptor 2 (FGFR2), mutated in 95p1200 of the patients with Pfeiffer syndrome
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/gain of function D321A, retain ligand-dependency and also associated with severe limb pathology
missense     in the tyrosine kinase domain 1
unknown     S351C associated with vertebral anomalies and cartilaginous tracheal sleeve
Remark(s) displaying a spectrum of non random mutations mostly of paternal origin with the frequent involvement of cysteine codons
Genotype/Phenotype correlations limited number of recurrent amino-acid changes (W290C, Y340C, C342R and S351C) is commonly associated with the most severe Pfeiffer phenotypes of poor prognosis