Overgrowth syndrome

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Overgrowth syndrome
Synonyms
Pronounce N/A
Specialty N/A
Symptoms Excessive growth, developmental delay, intellectual disability, macrocephaly, organomegaly
Complications Tumor development, cardiovascular abnormalities, orthopedic issues
Onset Prenatal or early childhood
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history, genetic predisposition
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis Gigantism, Beckwith-Wiedemann syndrome, Sotos syndrome
Prevention None
Treatment Symptomatic treatment, surgical intervention
Medication
Prognosis Variable, depending on specific syndrome and complications
Frequency Rare
Deaths N/A


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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]




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