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GENATLAS PHENOTYPE
last update : 28/10/2008
Symbol SADDAN
Location 4p16.3
Name severe achondroplasia with developmental delay and acanthosis nigricans
Corresponding gene FGFR3
Main clinical features
  • macrocephaly, severe dwarfism, rhizomelia, tibial bowing, short hands, hydrocephaly, seizures, mental retardation, acanthosis nigricans, respiratory distress
  • at radiography, bowing of right clavicle, shortened ribs, moderate platyspondyly, flared iliac wings, narrow sacrosciatic notches, trident acetabular roofs and radiolucency of proximal femurs
    • Genetic determination not applicable
    Prevalence exceptional
    Function/system disorder osteo-articular
    connective tissue
    mental retardation
    Type disease
    Gene product
    Name fibrogrowth factor, receptor 3 (FGFR3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     Lys650met, located within the activation loop of the FGFR3 tyrosine kinase domain
    Remark(s) . unusual radiographic features associated with this mutation, notably reverse (i.e., posterior apex) tibial and fibular bowing and ram's horn bowing of the clavicles