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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol HCH
Location 4p16.3
Name hypochondroplasia
Corresponding gene FGFR3
Main clinical features
  • short stature, micromelia, short hands, narrow interpedicular distance in the lumbar region, mild metaphyseal flaring
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name fibroblast growth factor 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function mostly N540K (60p100) in the TK1 domain, K650Q, K650N, K650T, N328I
    Genotype/Phenotype correlations Y278C and other mutations creating cysteine residues in the extracellular domain of the receptor associated to severe hypochondroplasia