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last update : 25-11-2016
Symbol LCCS4
Location 12q23.2
Name lethal congenital contracture syndrome 4
Corresponding gene MYBPC1
Main clinical features
  • most severe, neonatally lethal, form of arthrogryposis, a disorder characterized by congenital nonprogressive joint contractures
  • facial abnormalities, especially micrognathia, were found and autopsies demonstrated pulmonary hypoplasia, muscular atrophy, and paucity of anterior horn motor neurons
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease