Roberts syndrome

Roberts syndrome is a rare genetic disorder affecting physical development, caused by mutations in the ESCO2 gene, which is important for proper cell division. People with this condition often have distinctive facial features (such as cleft palate and prominent forehead), limb abnormalities (like missing or underdeveloped arms and legs), and growth delays. It can also involve intellectual disability and other health issues. Since it is inherited in an autosomal recessive pattern, both parents must carry a copy of the altered gene for a child to be affected. The severity and specific features can vary among individuals.