Important Discovery Made in AEC and EEC Research

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’s Story With AEC Syndrome

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,…