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What are ectodermal dysplasias?
The ectodermal dysplasias are inherited disorders that involve defects in the hair, nails, sweat glands and teeth. When a person has at least two types of abnormal ectodermal features—for example, malformed teeth and extremely sparse hair—the individual is identified as being affected by ectodermal dysplasia.
The conditions are a remarkably diverse group of disorders which may also affect other parts of the body. The ectoderm contributes to the formation of the lens of the eye, parts of the inner ear, the fingers and toes, and nerves, among others. Therefore, ectodermal dysplasia may cause these parts of the body to develop abnormally.
There are more than 150 different types of ectodermal dysplasias. Symptoms range from mild to severe. Only in rare cases does ectodermal dysplasia affect lifespan and very few types involve learning difficulties.
How are ectodermal dysplasias diagnosed?
In some cases, ectodermal dysplasia is apparent at birth. In other cases, a parent or doctor may only begin to suspect that a problem exists when teeth fail to develop normally. The ectodermal dysplasias are diagnosed by the pattern of what part of the body is affected and how it has developed and functions.
Specific genetics tests to diagnose ectodermal dysplasia are available for only a limited number of ectodermal dysplasias.
What causes ectodermal dysplasias?
All ectodermal dysplasias are heritable or genetic disorders, which means that they can be inherited or passed on to children. However, it is possible for a child to be the first person in his or her family to be affected by an ectodermal dysplasia. In that case, the condition likely has been caused by a change in the DNA or a genetic mutation.
How many people are affected?
No one is really sure. The latest estimate, published in the 1990 edition of The Birth Defects Encyclopedia, is that as many as seven of every 10,000 babies are born affected by an ectodermal dysplasia.
Ectodermal dysplasias affect both males and females of all races and ethnic groups.
Can ectodermal dysplasias be cured?
There are no cures for ectodermal dysplasias, but many treatments are available to address the symptoms. Research is ongoing to learn more about how different genes cause ectodermal dysplasias, what may be done to prevent the disorders in the future, and how to better treat individuals who are affected.
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