Lethal congenital contracture syndrome type 1

Go to external page 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

Herva disease

LCCS1

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486
hasDbXref
  • UMLS:C1854664
  • OMIM:253310
  • ICD-10:Q68.8
  • MeSH:C537194
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409943
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
notation
  • ORPHA:1486
part of
  • http://www.orpha.net/ORDO/Orphanet_108995
  • http://www.orpha.net/ORDO/Orphanet_108993
  • http://www.orpha.net/ORDO/Orphanet_182108
  • http://www.orpha.net/ORDO/Orphanet_330206
  • http://www.orpha.net/ORDO/Orphanet_102285
  • http://www.orpha.net/ORDO/Orphanet_294965
present in
  • http://www.orpha.net/ORDO/Orphanet_410065