Costello syndrome is a disease that affects around 300 people worldwide. It is caused by mutations in the genes that control the development and division of cells from different organs. In about 80% of patients, the anomaly causes changes in the amino acids p.Gly12Ser. Unfortunately, this causes variable symptoms, which makes diagnosis difficult. The only reliable criterion is genetic analysis.

Children with Costello syndrome are born underweight and struggle to feed themselves, so much that forced feeding is necessary. The chicks grow more slowly than the average and are of short stature, often afflicted by a moderate mental disability. In some cases, the disease also causes macrocephaly, muscle and skeletal malformations, cardiovascular problems. Delays in growth also cause puberty to shift forward, which is contrasted by the symptoms of premature aging in adulthood.

Costello's syndrome is in many ways similar to other diseases, which hinders its correct diagnosis. People with family cases can resort to prenatal diagnosis. In order for the tests to be effective, however, it is necessary to know the genetic mutation that runs in the family.

The treatments available today focus on the symptoms of the disease. Doctors therefore act on any cardiovascular problems, even with surgery. Specific intellectual strategies are used for intellectual problems. Periodic checks are used to counteract the development of tumors - a very present event in this disease.

Source: orpha.net