What are the symptoms? ED can cause problems with: absence or abnormality of hair growthabsence or malformation of some or all teethfailure to develop sweat glands that results in the inability to sweat, which causes overheatingfailure to develop other glands that are closely related to the sweat glands (such as the salivary and lacrimal glands and the breasts)dryness of the eyes, leading to sore, red eyes, frequent infections, damage to the cornea and cataractsreduced mucus in the nose and airways, leading to crusting and bleeding from the nose and chest infectionsfrequent infections due to immune system deficiencies or, in some cases, the inability of cracked or eroded skin to keep out disease-causing bacteriaabsence or malformation of some fingers or toescleft lip and/or palateskin pigmentation, often in irregular patches In addition to the above, there may be problems with: sensitivity to lightasthma, eczema and food allergiesa lack of breast development (in females)impairment or loss of hearing or visionconstipation. What are the causes? A number of genes have been identified, with the one most commonly involved being on the X chromosome. Alterations in this gene and a few others (especially the EDAR gene on chromosome 2) cause hypohidrotic ED (in which the secretions from sweat glands and other glands are reduced or absent). Alterations in a different gene (the p63 gene) can affect the development of the hands, feet and palate as well as affecting the eyes and causing other features of ED. There are many other genes that may be involved. In most cases, each affected patient or family has a specific gene alteration in one particular gene. How is it diagnosed? In some cases, ED is apparent at birth from the clinical features present. In other cases, it may become evident when teeth fail to develop normally or other features are noted. Testing to identify the particular gene alteration in each patient is often feasible. How is it treated? Treatment for ED will involve supporting particular difficulties experienced as a result of the condition. Individuals affected by ED may need support with: feeding problems, especially in infancy and early childhooddentures at a young age, with frequent adjustments and replacementsdental implants (artificial tooth root replacement) when olderadvice or equipment (e.g. fans or air conditioning) to help with cooling in hot weather or in school classroomscreams to keep the skin soft and to treat eczemaspecial diets to meet dental/nutritional needs or control allergieswigs to conceal hair and scalp conditions (although wigs may be unhelpful for some, especially when reduced sweating is a problem).devices or creams to protect from sunlighteye drops to prevent damage from dryness of the corneatherapies to help with breathing, such as treatments for recurrent chest infections and/or asthma. Specialist assessment and treatment by an ophthalmologist for other eye problems may be required. Inheritance patterns and prenatal diagnosis Inheritance patternsThese are variable according to the specific type of ED. Patterns include autosomal dominant, autosomal recessive and X-linked. Cases can arise as isolated (sporadic) cases within a family, when the mode of inheritance may be unclear. Genetic counselling is available for families that are affected. Prenatal diagnosisThis is available for some types of ED, but is not possible for all families. If the mutation responsible for the ED in a family is known, then Preimplantation Genetic Diagnosis (PGD: genetic testing of an IVF conception) may be available. Both prenatal diagnosis and PGD must be arranged well in advance of a pregnancy. Is there support? Ectodermal Dysplasia Society Tel: 01242 261332Email: email@example.comWebsite: www.edsociety.co.uk The Society is a Registered Charity in England and Wales No. 1089135. It provides information, advice and support to those affected by an ectodermal dysplasia, promotes the education of medical professionals and general public, supports research, encourages a network for mutual support and produces a newsletter. The Society has a medical advisory board. Group details last updated August 2021.