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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-11-2016
Symbol LCCS7
Location 17q21.2
Name lethal congenital contracture syndrome 7
Corresponding gene CNTNAP1
Main clinical features
  • distal arthrogryposis multiplex congenita found by fetal ultrasound between 28 and 32 weeks of gestation, with fetal hypo- or akinesia
  • polyhydramnios, distal joint contractures, and severe motor paralysis at birth, leading to death within the first 2 months of life
  • transmission electron microscopic analysis of sciatic nerve showed marked widening of the nodes of Ranvier and thin myelin sheaths as compared to control tissue of matched gestational age
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
  • frameshift mutations leading to premature termination of transcription and resulting in death within the first several weeks of life (PMID: 27668699))