/fetal akinesia-cerebral and retinal hemorrhage syndrome

fetal akinesia-cerebral and retinal hemorrhage syndrome

Rare Disease

MONDO:0014149

Also Known As

lethal congenital contracture syndrome type 5LCCS5lethal congenital contracture syndrome 5myopathy, centronuclear, lethal, autosomal recessive

Definition

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.