has material basis in germline mutation in GLE1 syndromic disease lethal congenital contracture syndrome 1 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/lethal_congenital_contracture_syndrome_1 MEDGEN:344338 DOID:0060559 GLE1 lethal congenital contracture syndrome OMIM:253310 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. MONDO:0009670 MESH:C537194 LCCS1 Herva disease UMLS:C1854664 GARD:0003227 multiple contracture syndrome, Finnish type lethal autosomal recessive syndrome of multiple congenital contractures SCTID:715418007 Lccs lethal congenital contracture syndrome type 1 lethal congenital contracture syndrome caused by mutation in GLE1 lethal congenital contracture syndrome 1 multiple congenital anomalies/dysmorphic syndrome without intellectual disability obsolete non-syndromic respiratory or mediastinal malformation thoracic malformation lethal congenital contracture syndrome