Roberts syndrome

Roberts syndrome is a rare genetic disorder characterized by fetal growth restriction, limb reductions, and craniofacial abnormalities. Upper extremities are more severely affected than lower extremities. It is caused by mutations in the ESCO2 gene, resulting in loss of acetyltransferase activity and manifesting as premature centromere separation in metaphase chromosomes. Diagnosis is made from cytogenetic testing of individuals with suggestive clinical findings. There is a wide clinical variability among affected individuals, and prognosis generally depends on the malformations present. Mortality rates are high among severely affected fetuses and newborns. Termination of pregnancy may be offered when the diagnosis is made before viability. Postnatal treatment is tailored to the affected individual’s specific needs, including surgical reconstructive procedures, speech therapy, and targeted treatment for specific cardiac defects.