Menkes syndrome – Kinky hair disease

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

Description Menkes syndrome

Menkes syndrome – inherited genetic disorder, arising out of the gene abnormalities ATP7A. Menkes syndrome causes malabsorption of copper. This leads to changes in the blood vessels and the deterioration of the brain.

Menkes syndrome is quite rare. It occurs in approximately 1 each case 50000-100000 Births. Most often it affects men. Most children, born with Menkes syndrome have a life expectancy of 3 to 5 years.

Causes Menkes syndrome

Copper is necessary for normal bone development, nerves and other tissues. Children with Menkes syndrome have a genetic disorder, which prevents the absorption of copper from the gut and cause its excessive accumulation in the kidneys, while the liver and brain of her lack of experience. This leads to a change in the development of hair, of the brain, bones, liver and arteries.

Risk factors for Menkes syndrome

Factors, that may increase the risk of Menkes syndrome include:

• Paul: male;
• The presence of family members with Menkes syndrome.

Symptoms of Menkes syndrome

Children with Menkes syndrome are often born prematurely. Symptoms usually appear within three months after birth and may include:

• Convulsions;
• Problems with feeding;
• Delays in development;
• Changes in muscle tone.

Children with Menkes syndrome often have the following physical characteristics:

• Short, confused, few, hair, that break easily;
• Chubby, rosy cheeks;
• Flattened nasal bridge;
• Rare or absent emotions.

Menkes Syndrome Diagnosis

To diagnose Menkes syndrome can be assigned to the following tests:

• X-ray of the skull and skeleton, to detect abnormalities in bone formation;
• Blood test, to measure its content of copper.

Treatment of Menkes syndrome

No, there is no treatment for Menkes syndrome. Early treatment with intravenous administration of copper acetate, oral formulations of copper, or injections of copper gistidinata can give temporary relief. Other treatments are used to relieve the symptoms of the disease.

Prevention Menkes syndrome

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