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GENATLAS PHENOTYPE
last update : 11/10/06
Symbol CATSHL
Location 4p16.3
Name camptodactyly, tall stature and hearing loss syndrome
Other name(s) CATSHL syndrome
Corresponding gene FGFR3
Main clinical features
  • tall stature associated to camptodactyly of the hand and/or feet, hearing loss, developmental delay, and/or mental retardation, scoliosis, pectus excavatum, mild microcephaly
    • Genetic determination autosomal dominant
    Function/system disorder ear
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function in the catalytic loop of the tyrosine kinase domain
    Remark(s)