Anhydrotic ectodermal dysplasia

A new disease profile is added to our database – Anhydrotic ectodermal dysplasia (EDA I). Аnhydrotic ectodermal dysplasia (EDA I) оr Christ-Siemens-Touraine syndrome is the most common form of hypohydrotic ectodermal dysplasia. The word hypohydrosis means diminished sweating ability, while ectodermal dysplasia refers to defects in the development of the ectoderm, which is the layer of cells in the embryo that develops into skin, hair, teeth, nails and secretory glands (tear glands, salivary glands, and mucous glands in the throat, larynx, respiratory system and intestinal tract). Full expression of the syndrome is found mainly in males (because the most common form is X-linked). According to the international literature, the incidence is estimated to be between 1 and 7 per 100 000 live births. In most cases, anhydrotic ectodermal dysplasia is inherited as an X-linked recessive genetic trait, which means that boys have the most pronounced symptoms. This is because they only have one X chromosome. Girls have two X chromosomes, and if one of these carries the predisposition for the syndrome it is compensated for by the other, normal chromosome. As a result, girls usually have less pronounced symptoms. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in genetics – Dr. Dimitrina Konstantinova, PhD.