label: fetal akinesia-cerebral and retinal hemorrhage syndrome
label_lc: fetal akinesia-cerebral and retinal hemorrhage syndrome
description: 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.