Lethal congenital contracture syndrome type 1

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Synonyms: Herva disease | LCCS1 | Multiple contracture syndrome, Finnish type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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