Menkes disease

Get in touch with RARE Concierge.

Contact RARE Concierge

Menkes disease

Synonyms: MD | Menkes kinky hair disease | Menkes syndrome

A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse abnormal steely hair.

Newly diagnosed with
Menkes disease?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Inclusive Skating

TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.

Jamal’s Helping Hands

Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.

Patient Advocate Foundation

Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.

Life Branches NFP Inc

Provide emotional wellness mental health to rare disease patients

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Indo US Organization for Rare Diseases (IndoUSrare)

With an initial focus on the Indian diaspora, our mission is to build cross-border collaborations to connect stakeholders of rare diseases in low- and middle-income regions—such as India—with their counterparts & clinical researchers in the US. This allows to improve the diversity of clinical trial participants, accelerates RnD, & improves equitable access to life-saving therapies.

Clinical Trials

For a list of clinical trials in this disease area, please click here.