Menkes kinky hair syndrome is a disorder caused by a genetic defect and is much more prevalent in boys than in girls. This defect prevents effective distribution and absorption of copper in the body. Also called Menkes disease or Menkes syndrome, the disorder is usually fatal within a few years after birth.
Pathology
Menkes syndrome is characterized by low copper levels in most parts of the body, but a build up of copper in the small intestine and kidneys. Low levels of copper affect bone structure, nerves, blood and blood vessels, skin and hair.
Time Frame
Symptoms usually begin appearing after 6 weeks of age. Initial signs are subtle, and because newborn screening for this disease is not available, early diagnosis seldom occurs.
Early Symptoms
A primary sign of Menkes syndrome is colorless or gray kinky hair. The hair is brittle and breaks easily. Other symptoms include feeding difficulties, irritability, lack of muscle tone and low body temperature.
Progressive Symptoms
Progressive symptoms involve mental deterioration, bleeding in the brain, seizures and weakening bones (osteoporosis).
Prognosis
If the disease is diagnosed very early, injections of copper may help decrease some symptoms and prolong life. Early diagnosis is rare, however, and the child usually does not live longer than a few years.
Tags: Menkes syndrome, syndrome disorder