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Alphabetical List

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, 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 syndrome.  These syndromes represent the largest groups of people who are registered with the ED Society with that type.

Ectodermal Dysplasia – Type Unknown

It is possible that a person could have a combination of symptoms that is unique to them and has not yet been described in the medical literature.  Or, the person is just told they are affected by ectodermal dysplasia.  The doctor might not know enough about the different types to give a specific diagnosis.  Or, the person was diagnosed at a time when we didn’t know as much about a particular type.

What is an unknown diagnosis?

There are hundreds of types of ectodermal dysplasias that have been identified and specifically named.  Even still, some individuals may not receive a diagnosis of a specific type of ectodermal dysplasia.

A diagnosis can be unknown for many reasons.  A few common reasons are below:

  1. The collection of symptoms a person is experiencing does not fit into a classic description of one ectodermal dysplasia syndrome.
  2. The person has not had genetic testing yet and their symptoms could fit more than one ectodermal dysplasia condition.
  3. Genetic testing has been done, but did not result in a diagnosis.  Instead, results may have been negative (no mutations in the known genes tested causing ectodermal dysplasia) or uncertain (the gene showed a variant – or difference – but it is not known if this difference causesectodermal dysplasia or is just part of typical variation among our genes and has no effect.)

Other ectodermal dysplasia types: