Note from Mary Fete, NFED Executive Director:

We are extremely pleased to report that Dr. Kenneth Olivier and Dr. Alexandra Freeman, NIH experts in pediatric pulmonology (lung disorders) and infectious diseases and immunology, will be performing respiratory function testing and immune function testing for patients enrolled in the special NIH studies this summer. 

Families have consistently reported increased levels of concerns for respiratory infections, asthma and allergic rhinitis in individual affected by various of the ectodermal dysplasias.  Previous survey studies of our NFED families have confirmed a significant increase in allergic disorders, asthma, eczema, ear infections and sinusitis in affected individuals compared to the general population. 

The studies at the NIH this summer will include questionnaires, physical examination, lung function studies, x-rays and lab tests.  Depending on the results of initial testing, some individuals may be invited back to the NIH for more advanced studies.

Research Study Details

Doctors at the National Institutes of Health (NIH) are conducting a study that will identify the conditions of craniofacial abnormalities, including ectodermal dysplasias, in an effort to develop treatments specific to the type of the condition.

From each family, the research team invites one person affected by ectodermal dysplasia and one person who is not affected or a person who is known to be a carrier.

The NIH will schedule appointments for individuals and families affected by ectodermal dysplasias for Tuesday, July 18; Wednesday, July 19 and the morning of Thursday, July 20. Appointments will take approximately four hours.

  • All study-related tests and procedures are provided at no cost.
  • All participants will receive a medical, and dental exam.
  • DNA sample (blood or buccal swab) and/or Cone Beam CT scan of the face, head and neck.

You may be eligible to participate in this study if you:

  • Are 2 years or older
  • Have an abnormal condition to your face, head, and neck that was present at birth, hemifacial microsomia, or may have developed after birth such as underbite, or any other facial defect
  • Are being considered for jaw surgery for bite abnormalities
  • Are a parent, sibling, or extended family member of the volunteer

You may NOT be eligible to participate in this study if you:

  • Are unable or unwilling to have a CT scan of the face, head and neck,


  • Unwilling to provide a DNA sample for this study
  • Are pregnant or breastfeeding if you are a healthy volunteer
  • Have had extensive facial trauma and reconstruction

Location: The NIH Clinical Center

Sign Up To Participate

Participating in a research study is a personal decision and families should consider many questions before deciding. If you have questions or are interested in participating, call 1-800-411-1222/(TTY: 1-866-411-1010) or email Esther Akpa at the NIH. Refer to study # 16-D-0040.

8 comments on “Volunteers Needed For A New NIH Study For Craniofacial Anomalies ”

  1. 1
    Karla O'Brien on April 27, 2017

    We are a 4 generation family with HED. We didn’t know it until my Grandson was born.
    It filled in my puzzle pieces of my own life.
    My Grandson will only have 6 teeth, has NO sweat glands and extremely dry skin and vocals, thin hair.
    I have 6 baby teeth that are attached to bridges. I’m 56 years old. Sweat glands issues, and hair issues.
    My daughter, has a few baby teeth, some skin issues.
    My Mom was born in Germany. She has hair and teeth issues.
    My number is 218-839-6517

    1. 2
      Kelley on April 28, 2017

      Hi, Karla. Thank you for sharing your story with us. We’re happy to have you apart of the NFED.

  2. 3
    Amanda Snyder on April 28, 2017

    My son has HED but I’m not sure what is considered a facial abnormality. Does missing teeth count? If you have to stay still for a cat scan, we likely can’t do it.

    1. 4
      Kelley on April 28, 2017

      Hi, Amanda. Yes, missing teeth would be considered a facial abnormality. We encourage you to call the study contact to discuss what is needed. The contact information is above. Thank you for your interest in the research that will help all families affected by ectodermal dysplasia.

  3. 5
    Lianne Simon on May 30, 2017

    Hi, Kelley, it sounds like you have to be considering jaw surgery to sign up. I’ve got micrognathia, but have so far avoided surgery.

    1. 6
      kelley on June 6, 2017

      Hi, Lianne. Thank you for your question. No, you do not need to be considering jaw surgery to participate. NIH has narrowed their criteria and is now only accepting males and their mother’s who are carriers into the study.

  4. 7
    Martha Ellis on May 25, 2018

    May 25th 2018
    Martha Ellis, I am 65 years old.
    I am willing to participate if you are needing volunteers for studies.
    I cannot afford to travel though.
    I already get notifications from NFED.

    1. 8
      Jodi Edgar Reinhardt on May 29, 2018

      Hi, Martha. Thank you for your willingness to participate in studies. I am not sure if this particular study is still enrolling participants or not. I would encourage you to contact them directly to learn more. Good luck and thank you! Jodi, NFED Director of Marketing and Communications

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