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Costello Syndrome

Costello Syndrome Causes

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.

Costello Syndrome Definition

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.

Costello Syndrome Diagnosis

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

Costello Syndrome 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. 

Costello Syndrome Treatment

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.

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