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GENATLAS PHENOTYPE
last update : 28/08/2006
Symbol OGD
Location 8p11.22
Name osteoglophonic dysplasia
Other name(s) osteoglophonic dwarfism
Corresponding gene FGFR1
Main clinical features
  • craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as the rhizomelic dwarfism and nonossifying bone lesions
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    osteo-articular
    Type disease
    Gene product
    Name fibroblast growth factor receptor 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function mutations in highly conserved residues comprising the ligand-binding and transmembrane domains
    Remark(s)