MedlinePlus Medical Encyclopedia: Menkes syndrome

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Menkes syndrome

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Hypotonia

Alternative names Return to top

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

Definition Return to top

Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.

Causes, incidence, and risk factors Return to top

Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.

Symptoms Return to top

Pudgy, rosy cheeks
Floppy baby (hypotonia)
Irritability
Seizures
Brittle, kinky hair
Feeding difficulties
Low body temperature
Bone spurs

Signs and tests Return to top

There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal.

The following tests may help diagnose the condition:

X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening)
Serum copper level may be low
Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level
Serum ceruloplasmin level may be low
Microscope examination of the hair may show breaks at regular intervals
Plasma amino acids may show elevated glutamate
Genetic testing may show mutation in the ATP7A gene

Treatment Return to top

Injection of copper has been used with mixed results. Present therapy consists of:

Copper acetate administered into a vein (intravenously)
Subcutaneous (injected under the skin) copper histidinate

Support Groups Return to top

Corporation for Menkes Disease
5720 Buckfield Court
Fort Wayne, IN 46804
219-436-0137

Expectations (prognosis) Return to top

Menkes is a serious disorder with early death being common.

Complications Return to top

Seizures, abnormally light pigmentation of the skin and hair. Death usually occurs in the first few years of life.

Calling your health care provider Return to top

Consult with 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

Genetic counseling is recommended for prospective parents with a family history of Menkes syndrome. Evaluation by a geneticist is recommended for maternal relatives of an affected boy to determine genetic risks and carrier status.

Update Date: 8/19/2003

Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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