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Menkes Syndrome(Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; Copper Transport Disease)
Definition

Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in changes in the arteries and deterioration of the brain.

Menkes syndrome is rare. Most children born with Menkes syndrome have a life expectancy of 3-5 years.

Causes

Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that prevents the absorption of copper from the intestines and causes it to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.

Risk Factors

Menkes syndrome is more common in males, and in those with a family history.

Symptoms

Children with Menkes are often born prematurely. Symptoms usually begin within 3 months after birth and may include:

  • Seizures
  • Difficulty feeding
  • Developmental delays
  • Floppy muscle tone

Osteoporosis—Weakened Bone Matrix

Osteoporosis

Copyright © Nucleus Medical Media, Inc.

Babies with Menkes syndrome often exhibit the following physical characteristics:

  • Hair that is stubby, tangled, sparse, lacking in color, and easily broken
  • Chubby, rosy cheeks
  • Flattened bridge of the nose
  • Face lacking in expression
Diagnosis

The following tests may be done to diagnose Menkes syndrome:

  • X-ray of the skull and skeleton to look for abnormalities in bone formation
  • Blood tests to measure copper levels
Treatment

There is no cure for Menkes syndrome. Early treatment with IV copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.

Prevention

There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.

RESOURCES:

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

Office of Rare Diseases Research
http://rarediseases.info.nih.gov

CANADIAN RESOURCES:

About Kids Health
http://www.aboutkidshealth.ca

Canadian Organization for Rare Disorders
http://www.cord.ca

References:

Menkes syndrome. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/menkes-syndrome. Updated March 2009. Accessed August 18, 2014.

NINDS Menkes disease information page. National Institute of Neurological Disorders and Stroke. Available at: http://www.ninds.nih.gov/disorders/menkes/menkes.htm. Updated September 30, 2011. Accessed August 18, 2014.



Last reviewed August 2014 by Rimas Lukas, MD; Michael Woods, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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