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Menkes Disease: Other FAQs

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Basic information for topics, such as "What is it?" and "How many people are affected?" is available in the Condition Information section. In addition, Frequently Asked Questions (FAQs) that are specific to a certain topic are answered in this section.

What should I do if my family has a history of Menkes disease and I want to have children?

Talk to your health care provider about your concerns and your family history. You should also talk to a genetic counselor to understand the nature of the Menkes mutation and the risks associated with it. More information on what a genetic counselor does and some common questions that are discussed during a consultation can be found at http://ghr.nlm.nih.gov/handbook/consult?show=all.

Your doctor or health insurer can help identify genetic counselors in your area. Other resources for locating genetic counselors include:

  • The National Center for Biotechnology Information. Their website, GeneTests, provides current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling. The GeneTests clinical directory is a voluntary listing of national and international genetic clinics. http://www.ncbi.nlm.nih.gov/sites/GeneTests/clinic?db=GeneTests
  • The National Society of Genetic Counselors. The society maintains a database to assist with finding a counselor. http://nsgc.org/p/cm/ld/fid=164 External Web Site Policy

In addition, if someone in your family is diagnosed with Menkes disease, females in the family might want to be tested to learn if they are carriers of the mutated gene.1

What should I do if my child is diagnosed with Menkes disease?

In addition to talking with your child's health care provider, consider visiting the Menkes Disease and Occipital Horn Syndrome International Registry — the world's only registry for patients with Menkes and occipital horn syndrome (OHS). The registry not only enables researchers to gather information about Menkes and OHS, but it also connects and supports patients and families around the world who are affected by this condition.


  1. National Library of Medicine, MedlinePlus. (2011). Menkes syndrome. Retrieved May 21, 2012, from http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm [top]

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Last Updated Date: 10/25/2013
Last Reviewed Date: 08/14/2013
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