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lethal congenital contracture syndrome 1 - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:lethal congenital contracture syndrome 1
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Accession:EFO:MONDO:0009670 term browser browse the term
Definition: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:exact_synonym: DOID:0060559;   GLE1 lethal congenital contracture syndrome;   Herva disease;   LCCS1;   Orphanet:1486;   http://identifiers.org/medgen/344338;   http://identifiers.org/mesh/C537194;   http://identifiers.org/snomedct/715418007;   http://linkedlifedata.com/resource/umls/id/C1854664;   https://omim.org/entry/253310;   lethal congenital contracture syndrome caused by mutation in GLE1;   lethal congenital contracture syndrome type 1;   multiple contracture syndrome, Finnish type
 related_synonym: Lccs;   lethal autosomal recessive syndrome of multiple congenital contractures
 alt_id: MONDO:0009670
 xref: DOID:0060559;   GARD:3227;   MEDGEN:344338;   MESH:C537194;   MIM:253310;   ORDO:1486;   SCTID:715418007;   UMLS:C1854664

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