The 180+ Ectodermal Dysplasias are recognised and named based on the specific combination of symptoms shown in affected individuals.  The pattern of these features is important when a physician tries to make a formal diagnosis.

In some types (syndromes), teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair.  Still another, may have hearing loss and defects of the enamel of the teeth.  Each combination of abnormalities may be a distinct Ectodermal Dysplasia and will have a unique name.

Visit the pages below to learn more about each particular type.  These types represent the largest groups of people who are registered with the International Ectodermal Dysplasia organisations.

What is an unknown diagnosis?

There are hundreds of different types of Ectodermal Dysplasias that have been identified and specifically named.  However, some individuals may not receive a diagnosis of a specific type of Ectodermal Dysplasia and is classified as ‘unknown type’.

A few common reasons for a diagnosis of ‘unknown’ may be that the person: –

  • is experiencing a collection of symptoms that do not fit into a classic description of one Ectodermal Dysplasia type,
  • is advised they are affected by Ectodermal Dysplasia but type ‘unknown’ as the doctor may not know enough about the different types to give a more specific diagnosis,
  • was diagnosed at a time when very little was known about a particular type,
  • could have a combination of symptoms that are unique to them and have not yet been described in the medical literature, 
  • has not had genetic testing yet and their symptoms could fit more than one type,
  • has had genetic testing which did not result in a diagnosis.  Instead, the results may have been negative (no mutations in the genes known to cause Ectodermal Dysplasia) or uncertain (the gene showed a variant or difference, but it is not known if this difference is the cause of Ectodermal Dysplasia or is just part of typical variation among our genes and has no effect).

Other ectodermal dysplasia types: