Ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures. The X-linked recessive ED (Christ-Siemens-Touraine syndrome ) is the most common disordere (80%of EDs); it affects males and is inherited through female carriers. It is characterized by the triad of signs comprising sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth (anodontia or hypodontia) and inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis). The lack of teeth and the special appearance were reported to be major concerns.
NATIONAL FOUNDATION FOR ECTODERMAL DYSPLASIAS
The National Foundation for Ectodermal Dysplasias provides information on characteristics, diagnosis, testing, mode of inheritance, genetic counseling and prevalence of Hypohidrotic Ectodermal Dysplasia but also information on the different types of Ectodermal Dysplasia.
There is an Ectodermal Dysplasias International Registry. The purpose of this registry is to consolidate information on those affected by ectodermal dysplasias into a single data repository which will be utilized to enable research and clinical trials leading to future treatments and cures. This registry is an international registry and includes all ectodermal dysplasia subtypes.
Geneskin provides a list of specialised centers, clinical trials and patient associations..
Orphanet also provides a list of expert centres, diagnostic tests, patient organizations, research projects, clinical trials, registries, networks.
The international network of organisations supporting those affected by Ectodermal Dysplasias propose a list of support groups worldwide.