Menkes syndrome
Hypotonia is often a sign of abnormality in the case of a newborn or older infant, and may suggest the presence of central nervous system dysfunction, genetic disorders, or muscle disorders. Hypotonic infants rest with their elbows and knees loosely extended, while infants with normal tone tend to have flexed elbows and knees. Head control may be poor or absent in the floppy infant with the head falling to the side, backward or forward.
Also known as: Steely hair disease, Menkes kinky hair syndrome or Kinky hair disease
- Bone spurs
- Brittle, kinky hair
- Feeding difficulties
- Irritability
- Lack of muscle tone, floppiness (hypotonia)
- Low body temperature
- Mental deterioration
- Pudgy, rosy cheeks
- Seizures
- Skeletal changes
- Abnormal appearance of the hair under the microscope
- Abnormally low body temperature
- Bleeding in the brain
- Slow growth in the womb
- Serum ceruloplasmin
- Serum copper level
- Skin cell (fibroblast) culture
- X-ray of the skeleton or x-ray of the skull
- Seizures
- Death
Definition
Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.
Causes, incidence, and risk factors
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
Signs and tests
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
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.
Expectations (prognosis)
Most persons with this condition die within the first few years of life.
Complications
Calling your health care provider
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
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.
- Review date:
- April 15, 2009
- Reviewed 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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