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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-11-2016
Symbol LCCS11
Location 15q21.2
Name lethal congenital contracture syndrome 11
Corresponding gene GLDN
Main clinical features
  • arthrogryposis multiplex congenita, developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements
  • transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes
  • postmortem examination revealed distal arthrogryposis of the hands, bilateral clubfoot, and pulmonary hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
  • mutations found in the affected individuals abolish the cell surface localization of gliomedin and its interaction with its axonal partner, neurofascin-186 (PMID: 27616481))