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GENATLAS PHENOTYPE
last update : 25-08-2010
Symbol MSMS
Location 19p13.2
Name Marshall-Smith syndrome
Corresponding gene NFIX
Main clinical features
  • failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies
  • accelerated skeletal maturation, dysmorphic facial features with prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia
  • death in the neonatal period or early infancy, most commonly from respiratory compromise
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s)