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Progeria

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Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic condition that causes a child's body to age fast. Most kids with progeria do not live past the age of 13. The disease affects both sexes and all races equally. It affects about 1 in every 4 million births worldwide.

A single mistake in a certain gene causes it to make an abnormal protein. When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.

Progeria is not inherited, or passed down in families.

Symptoms

Most kids with progeria look healthy when they're born, but they start to show signs of the disease during their first year. Babies with progeria do not grow or gain weight normally. They develop physical traits including:

  • A bigger head
  • Large eyes
  • A small lower jaw
  • A thin nose with a "beaked" tip
  • Ears that stick out
  • Veins you can see
  • Slow and abnormal tooth growth
  • A high-pitched voice
  • Loss of body fat and muscle
  • Hair loss, including eyelashes and eyebrows

As children with progeria get older, they get diseases you'd expect to see in people age 50 and older, including bone loss, hardening of the arteries, and heart disease. Children with progeria usually die of heart attacks or strokes.

Progeria doesn't affect a child's intelligence or brain development at all. A child with the condition isn't any more likely to get infections than other kids, either.

Diagnosing Progeria

Since the symptoms are very noticeable, it's likely that your child's pediatrician will spot them during a routine checkup.

If you see changes in your child that seem like symptoms of progeria, make an appointment with your pediatrician or family doctor. Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child's height and weight to other kids the same age.

Afterward, if your pediatrician is concerned, you may need to see a specialist in medical genetics, who can confirm the diagnosis with a blood test.

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