Which are the causes of Roberts Syndrome?

Roberts Syndrome is a rare genetic disorder that affects the development of multiple organ systems in the body. It is characterized by various physical abnormalities, particularly in the limbs, face, and skull. The condition is named after the British geneticist, Robin Roberts, who first described it in 1919.

The primary cause of Roberts Syndrome is mutations in the ESCO2 gene, which is responsible for producing a protein called cohesin. Cohesin plays a crucial role in ensuring the correct separation of chromosomes during cell division. Mutations in the ESCO2 gene lead to a deficiency or dysfunction of cohesin, resulting in abnormal chromosome segregation.

Roberts Syndrome is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. If both parents carry a single copy of the mutated gene, they have a 25% chance of having a child with Roberts Syndrome with each pregnancy.

The exact mechanisms by which cohesin deficiency leads to the specific physical abnormalities seen in Roberts Syndrome are not fully understood. However, it is believed that the disruption of chromosome segregation during early embryonic development affects the growth and development of various tissues and organs.

While the underlying genetic cause is well-established, certain environmental factors may also influence the severity of the condition. For instance, exposure to certain medications, chemicals, or toxins during pregnancy may exacerbate the symptoms of Roberts Syndrome.

It is important to note that Roberts Syndrome is an extremely rare disorder, with only a few hundred cases reported worldwide. The severity of the condition can vary widely among affected individuals, ranging from mild to severe. Common physical features include limb abnormalities (such as missing or fused fingers or toes), facial abnormalities (such as a cleft lip or palate), and skull malformations.

Diagnosis of Roberts Syndrome is typically based on clinical evaluation, physical examination, and genetic testing to identify mutations in the ESCO2 gene. While there is no cure for the condition, management primarily involves addressing the specific symptoms and providing supportive care.

In conclusion, Roberts Syndrome is a rare genetic disorder caused by mutations in the ESCO2 gene, leading to a deficiency or dysfunction of the cohesin protein. The exact mechanisms by which this disruption results in the specific physical abnormalities seen in the syndrome are not fully understood. While the underlying cause is genetic, environmental factors may also play a role. Early diagnosis and appropriate management can help improve the quality of life for individuals with Roberts Syndrome.