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What is Hutchinson-Gilford Syndrome?

Alex Paul
Alex Paul

Hutchinson-Gilford syndrome is an extremely rare condition that causes a young person to appear to age prematurely. The condition is the result of a mutated gene which happens randomly in about one in every eight million children. Symptoms of Hutchinson-Gilford syndrome include hair loss, stiff joints, and limited growth. Those with the condition often have a distinctive appearance due to a small jaw and nose. There is no known cure for the condition, although some of the symptoms can be treated, and the majority of people with the syndrome die between the age of eight and 21.

Children with Hutchinson-Gilford syndrome, also known as Progeria, seem to age much more rapidly than others. It is a very rare condition and is thought to currently affect less than 100 people worldwide. Scientists estimate that the incidence rate of the condition is around one in every eight million babies, with girls and boys at equal risk. The condition appears to be equally common among all races because there are reports of the disease from around the world.

Genetic testing is often used to diagnose Hitchinson-Gildford Syndrome.
Genetic testing is often used to diagnose Hitchinson-Gildford Syndrome.

It is thought that most cases of Hutchinson-Gilford syndrome are caused by a mutated gene. This mutation makes certain cells in the body become unstable, which leads to signs of aging in young children. Despite the condition being caused by genes, it is rare for more than one child in a family to have the syndrome. This is because the gene mutation happens almost entirely by chance. Diagnosis of the condition is often through a genetic test, although observation of the symptoms is sometimes enough.

The initial symptoms of Hutchinson-Gilford syndrome usually don’t appear until the child is about one year old. It is at this point that the parents may begin to notice changes in the child’s appearance and behavior. Symptoms such as hair loss, aged skin, and stiff joints are all common. The child may also fail to grow normally and can rapidly lose body fat. Children who suffer from Hutchinson-Gilford syndrome usually have delicate bodies, with a distinctive small jaw and pinched nose.

Currently, there is no cure for Hutchinson-Gilford syndrome. Most young persons with the syndrome die before they reach the age of 21, although some have been known to live longer. The vast majority of patients with the condition die from heart disease. Treatment usually focuses on the symptoms of the problem to increase the patient’s quality of life as much as possible.

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    • Genetic testing is often used to diagnose Hitchinson-Gildford Syndrome.
      By: lily
      Genetic testing is often used to diagnose Hitchinson-Gildford Syndrome.