Lethal congenital contracture syndrome 1

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.

Also known as: GLE1 lethal congenital contracture syndrome, Herva disease, LCCS1, lethal congenital contracture syndrome 1, lethal congenital contracture syndrome caused by mutation in GLE1, lethal congenital contracture syndrome type 1, multiple contracture syndrome, Finnish type, Lccs

10 clinical trials for this condition and its sub-types.