Lethal congenital contracture syndrome 1
Other Names: Multiple contracture syndrome, Finnish type; Lethal autosomal recessive syndrome of multiple congenital contractures
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.
NIH genetic and rare disease info[edit source]
Lethal congenital contracture syndrome 1 is a rare disease.
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