Kosaki overgrowth syndrome

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Kosaki Overgrowth Syndrome

Kosaki Overgrowth Syndrome (pronunciation: ko-sa-ki over-growth syn-drome) is a rare genetic disorder characterized by overgrowth, distinctive facial features, and intellectual disability.

Etymology

The syndrome is named after Dr. Kenjiro Kosaki, a Japanese geneticist who first described the condition in 1997.

Definition

Kosaki Overgrowth Syndrome is a condition that affects multiple parts of the body. The primary characteristics of this syndrome include overgrowth, which is evident at birth, distinctive facial features, and intellectual disability. Other features can include heart defects, skeletal abnormalities, and an increased risk of tumor formation.

Symptoms

The symptoms of Kosaki Overgrowth Syndrome can vary greatly among individuals. However, the most common symptoms include:

  • Overgrowth: This is typically evident at birth and continues throughout the individual's life.
  • Distinctive facial features: These can include a prominent forehead, wide-set eyes (hypertelorism), a flat midface, and a thin upper lip.
  • Intellectual disability: This can range from mild to severe and is typically present from early childhood.
  • Other symptoms can include heart defects, skeletal abnormalities, and an increased risk of tumor formation.

Causes

Kosaki Overgrowth Syndrome is caused by mutations in the PDGFRB gene. This gene provides instructions for making a protein that is involved in cell growth and division, as well as the maintenance of certain types of cells in the body.

Diagnosis

Diagnosis of Kosaki Overgrowth Syndrome is based on clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing can confirm a diagnosis.

Treatment

Treatment of Kosaki Overgrowth Syndrome is symptomatic and supportive. This can include physical therapy, educational support, and surgery to correct any heart or skeletal abnormalities.

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