Fetal akinesia-cerebral and retinal hemorrhage syndrome

Orpha code: 363409OMIM code: 615368

Definicja

Fetal akinesia-cerebral and retinal hemorrhage syndrome is 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.

Disease data
Klasyfikacja

Disease

Synonimy
LCCS5
Lethal congenital contracture syndrome type 5
LCCS5
Lethal congenital contracture syndrome type 5
Kod ORPHA
363409
Kod OMIM
615368
Kod ICD10
G71.2
Kod ICD11
-

No additional description.

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