Bowen-Conradi syndrome
Bowen-Conradi syndrome
Definition
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 Bowen Hutterite Syndrome, Bowen Hutterite syndrome (formerly), Bowen Hutterite syndrome, formerly, Bowen syndrome, Hutterite type, Bowen-Conradi Hutterite syndrome, Bowen-Conradi syndrome, BWCNS — per MONDO