Which are the symptoms of Roberts Syndrome?

Roberts Syndrome, also known as Roberts-SC phocomelia syndrome, is a rare genetic disorder that affects the development of various parts of the body. It is characterized by a range of physical abnormalities, particularly in the limbs and face. Individuals with Roberts Syndrome typically have distinctive facial features and limb malformations, which can vary in severity.

Facial features: People with Roberts Syndrome may exhibit certain facial characteristics that are often recognizable. These can include a small, triangular-shaped face with a prominent forehead, widely spaced eyes (hypertelorism), a small nose, and a downward-slanting mouth. Additionally, individuals may have a cleft lip or palate, which can further contribute to the unique facial appearance.

Limb abnormalities: One of the hallmark features of Roberts Syndrome is limb malformations. Affected individuals may have shortened or missing limbs, particularly the arms and legs. The bones in the limbs may be underdeveloped or fused together, leading to various degrees of limb shortening or complete absence. This condition is often referred to as phocomelia, where the limbs resemble flippers.

Growth and developmental delays: Children with Roberts Syndrome may experience growth and developmental delays. They may have a smaller stature compared to their peers and may take longer to reach developmental milestones such as sitting, crawling, or walking. Intellectual disability can also be present in some cases.

Other physical abnormalities: In addition to the facial and limb abnormalities, Roberts Syndrome can affect other parts of the body. These can include heart defects, kidney abnormalities, genital abnormalities, and gastrointestinal malformations. The severity and combination of these additional abnormalities can vary among affected individuals.

Recurrent infections: Individuals with Roberts Syndrome may be more susceptible to recurrent infections, particularly respiratory infections. This increased susceptibility to infections can be attributed to the underlying genetic abnormalities and compromised immune system function.

Genetic cause: Roberts Syndrome is caused by mutations in the ESCO2 gene, which plays a crucial role in the proper separation of chromosomes during cell division. These mutations disrupt the normal functioning of the gene, leading to the characteristic physical abnormalities associated with the syndrome.

It is important to note that the severity and specific symptoms of Roberts Syndrome can vary widely among affected individuals. Some individuals may have milder forms of the syndrome with fewer physical abnormalities, while others may have more severe manifestations. Early diagnosis and appropriate medical management can help address the specific needs of individuals with Roberts Syndrome and improve their overall quality of life.