Lethal congenital contracture syndrome type 1
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Lethal congenital contracture syndrome type 1?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.