ESCO2 Roberts syndrome (also known as ESCO2 syndrome or Roberts-SC phocomelia syndrome) is a rare genetic disorder characterized by multiple physical abnormalities and intellectual disabilities. It is caused by mutations in the ESCO2 gene, which plays a role in the regulation of cell division and chromosome segregation.

Individuals with ESCO2 Roberts syndrome typically have severe growth retardation, limb abnormalities (such as missing or underdeveloped limbs), craniofacial anomalies (such as a cleft lip or palate), and intellectual disabilities. They may also have heart defects, kidney abnormalities, and other organ malformations.

The diagnosis of ESCO2 Roberts syndrome is usually based on clinical features and confirmed through genetic testing to identify mutations in the ESCO2 gene. Prenatal diagnosis may be possible through fetal ultrasound and genetic testing if there is a family history of the condition or if there are suspected abnormalities.

Treatment for ESCO2 Roberts syndrome is primarily supportive and focused on managing the various physical and intellectual disabilities associated with the disorder. This may involve various interventions such as physical therapy, speech therapy, and educational support. Regular monitoring and medical care are also important to address any associated health issues that may arise.

The prognosis for individuals with ESCO2 Roberts syndrome varies depending on the severity of the physical abnormalities and intellectual disabilities. Some individuals may have a relatively mild form of the syndrome and can lead relatively independent lives with appropriate support. However, severe cases can be life-threatening and may result in early mortality.

Genetic counseling is recommended for individuals and families affected by ESCO2 Roberts syndrome to understand the inheritance pattern and the risk of having affected children in future pregnancies.