Fetal akinesia-cerebral and retinal hemorrhage syndrome

Orpha code: 363409OMIM code: 615368

Definition

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
Classification

Disease

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

No additional description.

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