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Menkes syndrome

Contents of this page:

Illustrations

Hypotonia
Hypotonia

Alternative Names    Return to top

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease

Definition    Return to top

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

Causes    Return to top

Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper.

Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys.

Menkes syndrome is inherited, which means it runs in families.

Symptoms    Return to top

Exams and Tests    Return to top

There is often a history of Menkes syndrome in a male relative.

Signs include:

In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

Tests include:

Genetic testing may show a change (mutation) in the ATP7A gene.

Treatment    Return to top

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.

Outlook (Prognosis)    Return to top

Most persons with this condition die within the first few years of life.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.

Prevention    Return to top

See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.

Update Date: 4/15/2009

Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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