Costello Syndrome

Below you will find more information about Costello Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Costello Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Costello Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Costello Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


An extremely rare disease with only 200 to 300 cases reported worldwide, Costello Syndrome is a genetic abnormality that slows down development and causes mental retardation. Patients share the same facial features, with loose skin and flexible joints, and are more prone to develop certain diseases like heart abnormalities, non-cancerous and cancerous tumors, and cell carcinoma. Individuals affected by this condition are relatively short and may possess lesser levels of growth hormones.


Doctors base their diagnosis on the telltale symptoms of Costello syndrome - the child's physical appearance, feeding difficulties, weight and height.


Medical interventions for Costello syndrome are aimed at addressing the symptoms and complications presented by the disease. It is therefore important for patients to undergo cardiology evaluation to detect heart conditions, therapies to improve mental development, and monitoring growth of tumors, orthopedic problems. Feeding problems, parents may opt to give their children gastrostomy tubes, or drip-feeding.

Symptoms and Signs

Infants suffering from Costello syndrome are usually big at birth, but because they find it difficult to feed, they grow slower than normal babies. Children and adults are prone to develop pallilomas near the nose, anus, or mouth.


HRAS gene, which is responsible for making a protein that direct cell growth and division, mutations trigger Costello Syndrome. These mutations produce HRAS protein that is always active, inducing constant cell growth and division. This is what causes the tumors. A copy of the altered gene within the cell is enough for an individual to develop this disease.

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