Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies- MedGen UID:
- 1794225
- •Concept ID:
- C5562015
- •
- Disease or Syndrome
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency at birth requiring ventilation and significant dysmorphic facial features; seizures may also occur. Brain imaging shows variable malformations of cortical development, most commonly polymicrogyria or other gyral anomalies. Death in infancy usually occurs (summary by Monteiro et al., 2020).