Participants Needed

Ectrodactyly-Ectodermal Dysplasia–Clefting (EEC) Syndrome

The NFED has made EEC syndrome one of our research priorities for the next several years. We are seeking individuals affected by EEC syndrome to complete a preliminary survey to help us better understand your symptoms and treatment needs. If you or a family member is affected by EEC syndrome, download BOTH the EEC survey and the Client Survey found below and complete them for each affected family member. Mail completed surveys to our office. Thank you!
 

Download EEC Survey
 

Client Survey

The NFED asks all individuals affected by an ectodermal dysplasia syndrome, including individuals that may be mildly affected or carriers of an ED gene to complete a Client Survey. Information from the surveys is used to help identify the broad scope of medical problems, define ED syndromes and direct Foundation efforts. All data from individual surveys is kept strictly confidential in the NFED office. Your information is very important to us.

Remember as you complete the survey…

• that no one person will have all the problems,
• that the degree of involvement (mild, moderate or severe) is not as important as a simple
  yes or no answer; and
• that the answers will be used to help compile data about ED syndromes that will be useful to the Scientific Advisory Board in finding out more about the ED syndromes.

Mail all completed Client Surveys to the NFED office at 410 E. Main St., P.O. Box 114,
Mascoutah, IL 62258-0114
 

Download Client Survey
 

Gene for Goltz Syndrome Identified

Dr. Van den Veyver and her research team continue to enroll families with Goltz syndrome for their studies.

The future research in Dr. Van den Veyver's lab will focus on understanding the normal function of PORCN and how its abnormal function leads to the features of Goltz syndrome. This will be done by analyzing the mouse model for Goltz syndrome that is being generated. The researchers will also study the gene's function and the effect of mutations in cell culture experiments. Now that the gene is known, it will also be important to continue to study the individuals who have Goltz syndrome to better understand how specific changes in the gene may relate to specific features.