Roberts Syndrome synonyms

Roberts Syndrome, also known as pseudothalidomide syndrome, is a rare genetic disorder characterized by severe malformations of the limbs and face. It is named after the British geneticist, Robin Roberts, who first described the condition in 1919. This syndrome is caused by mutations in the ESCO2 gene, which plays a crucial role in the development and maintenance of chromosomes.

Individuals with Roberts Syndrome typically have shortened limbs, cleft lip and palate, micrognathia (a small jaw), and craniofacial abnormalities. They may also exhibit intellectual disabilities, growth retardation, and heart defects. The severity of symptoms can vary widely among affected individuals.

Diagnosis of Roberts Syndrome is usually made based on clinical features and confirmed through genetic testing. Prenatal diagnosis can be performed through chorionic villus sampling or amniocentesis, allowing parents to make informed decisions about the pregnancy.

There is currently no cure for Roberts Syndrome, and treatment primarily focuses on managing the symptoms and associated complications. This may involve surgical interventions to correct limb abnormalities or address heart defects. Additionally, early intervention programs and educational support can help individuals with intellectual disabilities reach their full potential.

Due to its rarity, Roberts Syndrome is considered an orphan disease, meaning it affects a small number of individuals worldwide. Research efforts are ongoing to better understand the underlying mechanisms of the disorder and develop potential therapeutic interventions.