Searching for a diagnosis can be frustrating. Often, the diagnosis is delayed because providers don’t realize that ectodermal dysplasia is the cause for your child’s fever, poor hair growth or failure to thrive. There’s then more frustration and delay in finding a diagnosis of the specific type of ectodermal dysplasia.
Although it’s very helpful, a diagnosis isn’t necessary to treat ectodermal dysplasia. It’s relatively straightforward to manage the medical problems that come with ectodermal dysplasia without a diagnosis. If you have problems with sweating, you avoid overheating, whether your diagnosis is hypohidrotic ectodermal dysplasia (HED) or ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome. If you’re missing teeth, you’ll need orthodontia (braces or moving the teeth), whether the diagnosis is oculodentodigital dysplasia syndrome or ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
Benefits of a Specific Diagnosis
- Prognosis: A diagnosis may help you understand the prognosis or course of the condition and how it might change or impact your life over time.
- Prediction of natural history: A diagnosis could help organize screening tests and referrals for well-child care and avoid unnecessary labs or imaging studies.
- Family Impact: Since ectodermal dysplasias are genetic, it means they can be passed on through families. Knowing your diagnosis can help you understand what the chances are of other family members or future children being affected by the same condition due to the pattern of inheritance (how it is passed through families).
- Relief for the Family: Having an “answer” as to where the symptoms come from can give some relief.
- Health Management: Help you and your healthcare providers to better manage your health and follow up with the correct doctors and specialists
- Lessen feelings of isolation: A diagnosis can help your family identify other families with the same type of ectodermal dysplasia.
- Research and Treatments: In many cases, there is not a “curative” treatment available for ectodermal dysplasia. We’re working to change that and need your help! Knowing your diagnosis may help determine if you are available to participate in research studies.
How to Diagnose Ectodermal Dysplasia
In some cases, an ectodermal dysplasia is apparent at birth. In other cases, a parent or doctor may only begin to suspect that a problem exists later on when, for example, the baby’s teeth fail to develop normally. Because missing teeth is one of the cardinal features of many of the syndromes, it is often the dentist who makes the diagnosis and referrals.
A physician or dentist can make a clinical diagnosis of ectodermal dysplasia. This is based on the medical signs a person displays in a physical examination along with the symptoms they report. The doctor will then try to sort out which of the ectodermal derivatives are involved, as ectodermal dysplasias involve more than one. They’ll also look for abnormalities in organs that are not part of the ectodermal derivatives, such as ectrodactyly (malformations of the hand) or short stature.
The physician will also obtain a family history in an attempt to determine an inheritance pattern. The way that the condition is inherited is often an important factor for correct diagnosis.
A clinical diagnosis for ectodermal dysplasia is subjective. It’s an educated opinion formed after a doctor examines one or more members of a family. Genetic testing, in many cases, confirms the doctor’s suspicions. Genetic testing searches for changes in your genes that cause medical problems like ectodermal dysplasias.
However, there’s not a universal test that can identify all types of ectodermal dysplasia. Once a doctor suspects a certain type of ectodermal dysplasia, he or she may request a genetic test to confirm the diagnosis. The request is specific, asking the appropriate laboratory to test for a specific gene. If the changed form of the gene is present, the suspicion is confirmed, and diagnosis is certain.
Genes have been found for many of the ectodermal dysplasia but not for all. Genetic testing is now available for 60 types of ectodermal dysplasias. Find out if there’s a genetic test available for your type of ectodermal dysplasia.
To learn more about genetic testing, visit Genes In Life. It has extensive information about the various tests available, procedures, benefits, risks and, costs.
Diagnosis: Ectodermal Dysplasia, Type Unknown
Some people have difficulty finding a diagnosis. You can receive a diagnosis of ectodermal dysplasia without knowing the specific type. There will always be individuals with the label “ectodermal dysplasia-type unknown.” We know that this situation can be extremely frustrating for families. Joining the Ectodermal Dysplasias International Registry and entering your symptoms can help pinpoint a diagnosis.