Thank you for coming to our site to learn more about ectodermal dysplasias. We know that many health care professionals may see few, if any, patients with ectodermal dysplasia because of the rarity of these syndromes. In addition, ectodermal dysplasia diagnosis and care management can be complicated by the variability of clinical presentation across many syndromes.

The following resources can help guide clinical diagnosis and care of children and adults affected by ectodermal dysplasia. For resources related to research, please visit the Resources for Researchers page.

Diagnostic Support

Ectodermal dysplasia patients will often need to see a team of specialists for management and treatment due to the many body systems affected. Primary care physicians and dentists play a critical role in helping individuals get an early and accurate diagnosis to best coordinate this care. The goal is to not just diagnose someone with ectodermal dysplasia but to determine which of the 50+ sub-types is involved to guide treatment and understand outcomes.

Genetic testing is required to make a specific diagnosis, and testing is strongly encouraged as a way to determine eligibility for clinical trials and new treatments as they develop. Many commercial reference laboratories offer testing for ectodermal dysplasias.

Management Resources

For many ectodermal dysplasia symptoms, such as eczema, treatment may be straightforward. Other symptoms like skin erosions associated with specific ectodermal dysplasia syndromes are uniquely complex and have specific treatment protocols.

The NFED provides extensive resources to help physicians understand the different types of ectodermal dysplasia, what to expect and how to treat their symptoms. We encourage families to share our resources with their care provider team as many may not have treated someone with ectodermal dysplasia before. Likewise, we encourage physicians to share these resources with patients and their families.

Here are some key resources:

Patient Registry

The NFED’s Ectodermal Dysplasias Registry collects syndrome-specific natural history data about individuals with ectodermal dysplasias in the United States and Canada, with the goal of improving the understanding of ectodermal dysplasias and informing treatment development. 

Registry questionnaires were built from common data element standards and cover the following topics:

  • Socio-demographics
  • Medical history and diagnostics
  • Treatment and disease progression
  • Management of care
  • Quality of life
  • Clinical trial participation

You can encourage your patients to participate. This data will help researchers understand symptoms, evaluate treatments, and improve care.

If you have questions, please contact our Registry administrator at registry@nfed.org or 618-566-6872 for more information.

Resources for Patients

There are numerous ways we help families. Please share our name and website (nfed.org) with your patients and encourage them to join us. Our staff provides one-on-one support over phone or email. We listen, answer questions, and connect families with resources and our community.

You can help those with ectodermal dysplasia get medically necessary oral health care covered by health insurance. Working with dental professionals, we have created a Dental Providers Insurance Tool Kit to walk you through the process. It includes common diagnostic codes and letters of support.

Access Toolkit

Contact Us

We have extraordinary care providers on our Board of Directors and Patient Care Council who serve the ectodermal dysplasias community. They lead our clinical and research efforts, contribute to educational content, present webinars and Family Conference workshops, and more.

For more information, email Kelley, NFED Director, Family and Community Programs.