*Presentation of possible signs and symptoms may vary. See signs and symptoms for a more complete list.

Menkes disease overview

The cause of Menkes disease

Menkes disease is a genetic disorder that happens when a specific gene, called ATP7A, does not work correctly.1 Children born with Menkes disease have decreased absorption of copper, which affects a variety of functions dependent on copper throughout the body.1,4

Menkes disease causes problems in many ways within the body, negatively impacting4:

Molecule representing the impact of Menkes syndrome on cell function

Cell function

Shield representing the impact of Menkes kinky hair disease on cell protection

Cell protection

Connected circles representing how Menkes disease interrupts formation of connective tissue

Formation of connective tissue

Paint tube representing how problems in copper transport decrease formation of skin and hair color

Formation of skin and hair color

Two cells representing how Menkes syndrome impacts production of important brain chemicals

Production of important brain chemicals

Illustration of a mom with her baby with Menkes disease

Menkes disease is a rare disease, with recent estimates suggesting a prevalence of 1 in 34,810 to as high as 1 in 8,664 live male births.5

Menkes disease is also known as1:

  • Menkes syndrome
  • Kinky hair disease
  • Steely hair disease
  • Menkes kinky hair disease
  • Menkes steely hair disease
  • Trichopoliodystrophy

Menkes disease signs & symptoms

Multiple parts of the body are affected in Menkes disease, which can lead to a variety of signs and symptoms1,6:

Newborn illustration showing Menkes disease symptoms and affected organs

Bladder

Stomach/Intestines

Lungs

Heart

Brain

Connective tissue

Skeleton

Urological symptoms

  • Recurrent UTIs, which can be caused by bladder diverticula (a pouch, pocket, or sac that protrudes out of the bladder wall)

GI symptoms

  • Feeding difficulties
  • Vomiting/diarrhea

Respiratory failure

  • Trouble breathing

Heart disease

Neurological symptoms

  • Seizures
  • Low muscle tone (floppiness)
  • Not meeting developmental milestones

Kinky and/or steely, dry, brittle hair

Connective tissue abnormalities

  • Saggy facial features
  • Loose skin on the body

Skeletal abnormalities

  • Osteoporosis
  • Spontaneous fractures

Menkes disease diagnosis and testing

Diagnosis of Menkes disease in newborns is challenging The signs and symptoms of Menkes disease can be confused with other disorders, especially in newborns1

Diagnosis of Menkes disease requires increased attention to possible signs and symptoms followed by appropriate laboratory tests and/or genetic testing by your child’s doctor4:

Clipboard a doctor uses when examining a Menkes disease patient

Clinical evaluation of signs and symptoms

Drops representing laboratory tests a doctor may use to diagnose Menkes disease

Laboratory tests, including copper and certain brain chemicals

Family tree showing how Menkes disease is a genetic disorder on the mom's side

Family history of Menkes disease symptoms, especially in males on the mother’s side

Computer screen showing DNA to demonstrate how genetic testing can confirm Menkes syndrome diagnosis

Genetic testing

Download our Menkes Disease Patient Conversation Guide for more information on the tests used to diagnose Menkes disease.

Menkes disease prognosis

Early diagnosis is key7

Menkes disease is a devastating disorder, with death usually occuring between 6 months and 3 years of age.1

There are currently no approved treatments for patients with Menkes disease. Supportive care can help patients have better quality of life and manage symptoms.1 For information on clinical trials, please visit clinicaltrials.gov.

Illustration of a Menkes disease doctor and care team

It takes a team to care for a patient with Menkes disease1,8

  • Neonatologist/Pediatrician
  • Neurologist
  • Geneticist
  • Gastroenterologist
  • Pulmonologist
  • Urologist
  • Dietitian
  • Occupational therapist
  • Speech pathologist
  • Social worker

Does your child have any combination of the signs and symptoms of Menkes disease?

If a family member has been diagnosed with or is suspected of having Menkes disease, learn how to find a Menkes disease treatment center near you:

The following websites can provide you with more information about Menkes disease and its treatment:

Get connected with other caregivers, families, and healthcare professionals caring for a child with Menkes disease by joining or starting your own support group at:

Advocate for Menkes disease to be included in standardized newborn screening panels so that diagnosis can be made earlier. You can also contact your local representative or start a petition for your state. Visit the following resources to learn how you can get involved:

Frequently Asked Questions

Discover frequently asked questions to better understand Menkes disease and find support.

What do I do if I think my child has signs and symptoms of Menkes disease?

If you spot possible signs and symptoms of Menkes disease, talk to your child’s doctor and ask about different testing options, including copper, ceruloplasmin, biochemical, and genetic tests. To learn how to recognize the signs and symptoms of Menkes disease, visit our Signs and Symptoms page and download our Menkes disease conversation guide.

My child has just been diagnosed with Menkes disease. What are the next steps?

Talk to your child’s doctor about connecting with the appropriate care team for your child and finding a Menkes disease expert near you. See more information about Menkes disease, current clinical trials at clinicaltrials.gov and where you can find a Menkes disease treatment center.

Where can I find support groups for families and caregivers of children with Menkes disease?

Support groups are available through social media sites and through the Menkes Foundation. Connect with others to share your story about living with rare diseases at RareDiseaseDay.org or check out other available groups.

Where can I find out about the most recent Menkes disease research?

The most recent clinical research can be found at the National Organization for Rare Disorders or the Genetic and Rare Diseases Information Center. If you’d like to directly receive updates on new treatment advancements, sign up to receive informational emails.

Conversation guide by Sentynl Therapeutics, Inc.

Looking for more information?

Download our Menkes Disease Patient Conversation Brochure for a guide to discussing Menkes disease with your child’s doctor

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  • References:
    1. Ojha R, Prasad AN. Menkes disease: what a multidisciplinary approach can do. J Multidiscip Healthc. 2016;9:371-385.
    2. Kaler SG. ATP7A-related copper transport diseases–emerging concepts and future trends. Nat Rev Neurol. 2011;7(1):15-29.
    3. Tümer Z, Klomp L. Clinical utility gene card for: Menkes disease. Eur J Hum Genet. 2011;19(10).
    4. Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet. 2010;18(5):511-518.
    5. Kaler SG, Ferreira CR, Yam LS. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD). Mol Genet Metab Rep. 2020;24:100602.
    6. Hicks JD, Donsante A, Pierson TM, Gillespie MJ, Chou DE, Kaler SG. Increased frequency of congenital heart defects in Menkes disease. Clin Dysmorphol. 2012;21(2):59-63.
    7. Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008;358(6):605-614.
    8. Kaler, SG. Inherited disorders of human copper metabolism. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. 7th ed. Academic Press; 2021:413-443.