Ectodermal Dysplasia is a group of genetic conditions resulting from abnormalities in the ectodermal structures (nervous system, tooth enamel, outer layer of skin, linings of the mouth, anus, nostrils, hair, nails, etc.). There are over 150 different syndromes relating to ectodermal dysplasia. All types of ectodermal dysplasia are genetic or inherited, which means the conditions are caused by changes or mutations in genes. But only some of the genes involved in the conditions are known.
In this type, hearing loss occurs when the structures of the ear are affected. This hearing loss may be mild to complete hearing loss. Sensorineural hearing loss is a type of hearing loss in which the problem lies within the inner ear, parts of the brain involved in hearing, or the nerves connecting the two. This form of hearing loss is usually not medically or surgically corrected. Other complications that may be present with this type of ectodermal dysplasia include vision loss or impairment, minimal or no hair growth, overly pigmented skin, discolored fingernails, and pointed or missing teeth. Diagnosis may occur at birth or as problems are suspected in the early development of the child, for instance as the teeth grow abnormally. The type of ectodermal dysplasia is diagnosed by the pattern of symptoms.
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 and how to better treat individuals who are affected. If your child has been diagnosed with ectodermal dysplasia with sensorineural hearing loss, talk with your child’s doctor and specialists about the most current treatment options. Support and advocacy organizations for hearing loss or ectodermal dysplasia may also be good resources for information and may help you connect with other families affected by hearing loss and ectodermal dysplasia.