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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-11-2016
Symbol LCCS2
Location 12q13.2
Name lethal congenital contracture syndrome 2
Other name(s) multiple contracture syndrome, Israeli Bedouin type
Corresponding gene ERBB3
Main clinical features
  • arthrogryposis associated with atrophy of the anterior horn of the spinal cord
  • congenital contractures, multiple pterygia, and fractures, markedly distended urinary bladder and other urinary malformations
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    kidney and urinary tract
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein