Roberts syndrome is a genetic disorder in which the patient displays physical and mental abnormalities. Children born with this rare disorder have an unusually slow growth rate, and they may also have physical defects. The severity of this condition can range from mild to severe, and infants born with a severe form of the disorder may not survive long after birth. Roberts syndrome itself cannot be treated, as of 2011, however, some treatments may address certain physical abnormalities.
As of 2011, about 150 people in the United States have been reported as being born with Roberts syndrome. This very rare condition results from a genetic mutation in the ESCO2 gene. When this gene is mutated, it fails to produce a certain type of protein, called an ESCO2 protein. These proteins are needed to bind certain chromosomes together.
When the body does not have these proteins and the binding fails, it automatically results in a delayed division of cells. The self-destruction of cells will result from delayed cell division. As of 2011, it is unknown how some infants can be born with a mild form of the disorder, while others are severely affected, because both of these cases suffer from the same self-destruction of cells. It is possible that other, unknown factors contribute to the severity of the condition.
Roberts syndrome begins affecting the fetus prior to birth, causing slowed development. Unusually slow growth continues after birth. In severe cases, the infant will have missing fingers or toes, or otherwise abnormal digits. Joint deformities can also be present at the knees and elbows. Typically, the infant's arms are prone to greater abnormalities than his legs, but there is no variance between the right and left sides of his body.
This slowed development can cause hypomelia, which refers to stunted or shorter arm or leg bones. Phocomelia can occur in severe cases, which means that the infant's hands and feet are much closer to the body than usual, due to the shortened limbs. Other abnormalities can affect the infant's genitals, kidneys, and heart. Microcephaly, or a small head, has also been reported, and some infants also suffer from encephalocele, which means that the brain protrudes toward the front of the skull.
Young patients with Roberts syndrome may also present with a cleft palate, which refers to an opening in the roof of the mouth, and a cleft lip, or an opening in the lip. Some of them may have unusually wide-set eyes and physical deformities of the ears. In addition to these physical defects, about half of patients with this genetic condition suffer from intellectual impairments which includes mild to severe mental retardation.
While there is no cure for Roberts syndrome, as of 2011, it may be possible to correct some of the physical deformities. Those born with a cleft lip or cleft palate can undergo surgery to correct these problems. Mobility aids like walkers and leg braces can help those who have trouble walking due to delayed development.
