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Up to: Autosomal recessive disease · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Bowen-Conradi syndrome
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.
This condition has no sub-types.