By Maranke Koster, Ph.D. The long-term goal of our research is to design novel therapies for the treatment of skin and cornea lesions that occur in ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) and ectrodactyly-ectodermal-dysplasia-clefting (EEC) patients. In the past, many of you have donated skin biopsies to support this research. These skin biopsies were used…
Learn about the Brown family’s journey when their daughter, Erin, was diagnosed with Ankyloblepharon-Ectodermal Defects-Clefting (AEC) syndrome. They also talk about how their NFED family has been a tremendous help over the last 5 years.
By Maranke I. Koster, Ph.D. and Peter J. Koch, Ph.D., University of Colorado School of Medicine Since our last research update, we have been hard at work to understand the basis for skin and eye abnormalities that occur in patients affected by ankyloblepharon-ectodermal defects-clefting (AEC) syndrome and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. These two ectodermal dysplasias are caused…
Amelia is a teenager who is affected by ankyloblepharon-ectodermal dysplasia-cleft lip and/or palate (AEC) syndrome. When she was born, she had toes that were connected and a few other signs that were different. She started turning blue at two hours and lived in the NICU for months. She was suffering from chonal atresia. Maggie, her mom,…
After running the Hot Chocolate 5K in 2013, and thoroughly enjoying myself, I set a goal for myself to run at least three 5K’s and a 15K before the end of 2014. It had been years since I last ran competitively, but I’ve learned a thing or two about smashing limits in my lifetime. As…
You Have the Opportunity to Share Your Eye Concerns With Researcher By Jack Kriz I am so excited! I mean really, really, excited! Dr. Colin E. Willoughby will attend this year’s National Family Conference! Who is this doctor? Well, early this year, NFED staffer Mary Fete, shared with me some info about a researcher from Belfast…
Chicago, Illinois The NFED is bringing together researchers, doctors and individuals affected by ADULT syndrome; ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome; ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; and limb-mammary syndrome. Our goal is to create a treatment protocol for the skin erosions or wounds people with these syndromes experience.
The NFED is excited to launch the Ectodermal Dysplasias Registry! By joining, you can help researchers and doctors better understand these rare conditions, improve treatments, and shape the future of care. Every story shared adds to our knowledge and brings hope for all families affected by ectodermal dysplasias.