Fetal akinesia-cerebral and retinal hemorrhage syndrome

A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

Also known as: lethal congenital contracture syndrome type 5, LCCS5, lethal congenital contracture syndrome 5, myopathy, centronuclear, lethal, autosomal recessive

42 clinical trials for this condition and its sub-types.