Health Conditions and Diseases Neurological Disorders Congenital Anomalies
Lethal Congenital Contracture Syndrome
2
The lethal congenital contracture syndrome (LCCS, Herva disease) is an autosomal recessive syndrome that causes prenatal death of affected fetuses before the 32nd gestational week. Prenatal diagnosis is based on fetal akinesia, which is detectable in ultrasonography after the 14th gestational week. The akinesia develops due to degenaration of anterior horn motor neurons, which leads to multiple contractures of the joints. The other key features are slow growth, hydrops in early pregnancy and dysmorphic features.
More information
More information
Related categories 1
Sites 2
Full text of article by Mäkelä-Bengs et al that describes the location of the Herva-Syndrome-causing defect using a genome scan using five affected individuals.
Description of the state of knowledge of Lethal Congenital Contracture Syndrome (Herva Syndrome), and references thereto.
Description of the state of knowledge of Lethal Congenital Contracture Syndrome (Herva Syndrome), and references thereto.
Full text of article by Mäkelä-Bengs et al that describes the location of the Herva-Syndrome-causing defect using a genome scan using five affected individuals.
