Overgrowth syndrome

Overgrowth syndrome is a term used to describe a group of genetic disorders characterized by an increased growth rate, often resulting in an abnormally large size for a person's age or stage of development. These syndromes can affect multiple parts of the body, including the bones, muscles, skin, and internal organs.

Causes

Overgrowth syndromes are typically caused by mutations in various genes. These mutations can occur spontaneously (de novo) or they can be inherited from a parent. The specific genes involved vary depending on the particular syndrome. For example, Beckwith-Wiedemann syndrome, one type of overgrowth syndrome, is often caused by changes in the genes on chromosome 11.

Symptoms

The symptoms of overgrowth syndromes can vary widely, but they often include increased height and weight, large body size, and other physical abnormalities. Some people with these syndromes may also have intellectual disabilities or developmental delays. Other symptoms can include macroglossia (an abnormally large tongue), organomegaly (enlarged organs), and hemihypertrophy (one side of the body being larger than the other).

Diagnosis

Diagnosis of overgrowth syndromes typically involves a physical examination, a review of the person's medical and family history, and genetic testing. Genetic testing can help identify the specific gene mutation causing the syndrome.

Treatment

Treatment for overgrowth syndromes typically involves managing the symptoms and complications associated with the condition. This can include surgery to correct physical abnormalities, therapies to manage developmental delays, and regular monitoring for potential complications such as tumors.

See also

• Genetic disorder
• Beckwith-Wiedemann syndrome
• Sotos syndrome
• Proteus syndrome

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