Menkes diseaseOther Names: Menkes syndrome; Steely hair disease; Menkea syndrome; Kinky hair disease; Copper transport disease

Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Some additional signs and symptoms may include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy, but, in some cases, the symptoms may begin later in childhood. Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may improve the prognosis in some children with this disease.

Signs and symptoms may include:

  • Curly, thin hair, dull and discolored hair, rough to the touch, especially in areas subject to friction, and may be noticed as early as 2 months of age
  • Trouble gaining weight
  • Growth retardation
  • Progressive nervous system deterioration
  • Weak muscle tone (hypotonia)
  • Facial droop
  • Seizures
  • Intellectual disability

It may also be observed:

  • Preterm babies
  • Lump in the head when children are born by c-section surgery
  • Low temperature (hypothermia)
  • Low blood sugar (hypoglycemia)
  • Yellow skin and eyes (jaundice) that requires several days of treatment with incubator and light
  • Hollowed chest (pectus excavatum)
  • Inguinal or umbilical hernia

There is a milder form of the disease called the occipital horn syndrome or X-linked cutis laxa, which begins in children and which also has loose skin and joints.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Contact the Genetic and Rare Diseases (GARD) Information Center for more information on Menkes Disease