/lethal congenital contracture syndrome 1

lethal congenital contracture syndrome 1

Rare Disease

MONDO:0009670

Also Known As

GLE1 lethal congenital contracture syndromeHerva diseaseLCCS1lethal congenital contracture syndrome 1lethal congenital contracture syndrome caused by mutation in GLE1lethal congenital contracture syndrome type 1multiple contracture syndrome, Finnish typeLccslethal autosomal recessive syndrome of multiple congenital contractures

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.