Conditions / Syndrome
lethal congenital contracture syndrome 5
info · Syndrome
A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chr
A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13.
Signs and symptoms
- Polyhydramnios
- Retinal hemorrhage
- Flexion contracture
- Hypotonia
- Respiratory insufficiency
- Small for gestational age
- Decreased fetal movement
- Decreased nerve conduction velocity
- Thin ribs
- Centrally nucleated skeletal muscle fibers