Bowen-Conradi syndrome

MONDO:0008879

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

Also known as: BWCNS, Bowen Hutterite Syndrome, Bowen Hutterite syndrome (formerly), Bowen Hutterite syndrome, formerly, Bowen syndrome, Hutterite type, Bowen-Conradi Hutterite syndrome, Bowen-Conradi syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Bowen-Conradi syndrome itself.

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↑ Autosomal recessive disease (999) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Bowen-Conradi syndrome (0)

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