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Menkes syndrome is characterized by thin and coarse hair, growth failure, and deterioration of the nervous system. Extra signs and symptoms comprise weak muscle tone, sagging facial features, seizures, mental retardation, and developmental delay.
Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper. Copper added at oddly low levels in the liver and brain, but at elevated than normal levels in the kidney and intestinal lining. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim’s hair, which appears to be both whitish and kinked when viewed under a microscope. There is often extensive neurodegeneration in the gray matter of the brain. Menkes’ disease is transmitted as an X-linked recessive trait.