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Lethal congenital contracture syndrome type 3

Disease definition

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

ORPHA:137783

Classification level: Disorder
  • Synonym(s):
    • LCCS3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q68.8
  • OMIM: 611369  614915
  • UMLS: C1969655
  • MeSH: -
  • GARD: 12644
  • MedDRA: -
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