Roberts syndrome

Roberts syndrome, also called pseudothalidomide syndrome, is an extremely rare inherited disorder passed on in an autosomal recessive pattern. It is characterized by mild to severe prenatal retardation or disruption of cell division, which leads to malformation of the bones of the skull, face, arms and legs. The cause is a mutation in the ESCO2 gene, which makes cell division proceed slowly or unevenly so that cells with abnormal genetic content die. Roughly 150 affected individuals are known, which places it among the rarest autosomal recessive disorders. Males and females can both be affected, and although the condition is rare the affected group is diverse; the mortality rate is high in severely affected individuals. It is named after the American surgeon and physician John Bingham Roberts (1852 to 1924), who first described it in 1919.