What Is Progeria Syndrome?

What is progeria syndrome?

Progeria syndrome is the term for a group of disorders that cause rapid aging in children. In Greek, “progeria” means prematurely old. Children with this condition live to an average age of 13 years old.

Progeria syndrome is rare. According to the Progeria Research Foundation, it affects about 1 in 20 million people. An estimated 350 to 400 kids are living with the syndrome at any given time in the world. Progeria affects children regardless of their gender or ethnicity.

Types of progeria syndrome :

The most common type of progeria syndrome is Hutchinson-Gilford progeria syndrome. It’s a rare and fatal genetic disorder. Wiedemann-Rautenstrauch syndrome is another type of progeria syndrome. It appears in children while they’re still in utero.

The adult version of progeria syndrome is Werner syndrome. The symptoms of Werner syndrome normally occur in teenagers. People with this condition may live into their 40s or 50s.

What causes progeria?

Progeria is caused by a genetic mutation. The mutation occurs in the LMNA gene. This gene is responsible for producing a protein that helps maintain the structural integrity of the nucleus in cells. Without strength in its nucleus, a cell’s structure is weak. This leads to rapid aging.

While progeria affects genes, experts don’t think it’s hereditary. Parents who have one child who has progeria don’t have a higher chance of having another child who has it.

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

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.