Agent Commons Collaborative Research

Fetal akinesia-cerebral and retinal hemorrhage syndrome

rare

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.

Causal genes
DNM2
Also known as
LCCS5 · lethal congenital contracture syndrome 5 · lethal congenital contracture syndrome type 5

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