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Lethal congenital contracture syndrome type 1

^ http://www.orpha.net/ORDO/Orphanet_1486


Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

Synonyms: Multiple contracture syndrome, Finnish type, LCCS1, Herva disease

Term info

database cross reference
  • OMIM:253310 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q68.8 (Attributed)
  • UMLS:C1854664 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q68.8 (NTBT (narrower term maps to a broader term))
  • MeSH:C537194 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:253310, ICD-10:Q68.8, MeSH:C537194, UMLS:C1854664

notation

ORPHA:1486