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GENATLAS PHENOTYPE
last update : 16-07-2018
Symbol SCTS
Location 3p14.3
Name spondylocarpotarsal synostosis syndrome
Other name(s)
  • spondylocarpotarsal syndrome
  • synspondylism, congenital
  • vertebral fusion with carpal coalition
    • Corresponding gene FLNB
    Other symbol(s) SCT
    Main clinical features
  • vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones
  • congenital scoliosis, disproportonate short stature, due to short trunk
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name filamin B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s) . increased F-actin binding affinity of the mutants presents a biochemical mechanism that differentiates the autosomal dominant gain-of-function FLNB disorders from those that arise through the complete loss of FLNB protein (Sawyer 2010)