When it comes to understanding and diagnosing ectodermal dysplasia syndromes in children, parents play a crucial role. These genetic disorders affect 1 in 10,000 births. Some symptoms can be identified during pregnancy or at birth (especially if there is a family history), many only become noticeable during later stages of growth and development, like when teeth start to come in.
Because parents offer so much love and ongoing attention, they are often the first to see signs that make them worry or suspect that something is wrong. Many moms and dads turn to the internet to find answers and support.
We understand it is an emotional time and we are here to help. When possible, getting a specific diagnosis for ectodermal dysplasia syndromes offers many benefits to a child and family. We put together some information on starting that journey for different stages of a child’s growth and development.
Detecting Ectodermal Dysplasia During Pregnancy
Most ectodermal dysplasia syndromes are diagnosed after a baby is born. However, using the latest ultrasound technology, it might be possible to notice some signs during pregnancy. For example, your doctor may be able to see clefting and missing digits. These are symptoms of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
For parents who know there is a family history and their baby is at risk, there are tests which can be done. These tests can be completed in utero depending on the syndrome and if a genetic test has been developed. Genetic testing currently exists for 60 of the 180+ types of ectodermal dysplasias.
Discovering Symptoms at Birth
For some syndromes, such as Goltz syndrome, symptoms will be noticeable at birth. This is what happened with Maximus and his parents. He was born with a head wound, fused fingers, and a missing toe. In cases like this, your hospital will bring in specialists who can help with symptoms and a diagnosis. Blood testing might also be possible to confirm the diagnosis.
As new parents, it’s hard to know if you are worrying too much. When you suspect something is wrong, there can still be a lot of doubt. Doctors might not be able to calm your fears if they are not familiar with ectodermal dysplasia syndromes. We tell moms and dads to trust their guts!
It’s often difficult to recognize syndromes during the first year because of the lack of hair, teeth and verbal skills. There are symptoms you might start to notice. Some of the signs a parent pick up over time are
- Fussiness or red cheeks when swaddled due to overheating,
- Low weight,
- Height deficits,
- Persistent diaper rashes, and
- Ongoing respiratory infections.
Another key indicator is when teeth start to develop. Missing or pointed teeth is one of the symptoms of hypohidrotic ectodermal dysplasia (HED). HED is a syndrome experienced by about 70% of our NFED families. Read Maverick’s story and about the experiences of the Mortensten family to learn about the signs which led them to an HED diagnosis.
Visiting Doctors and a Genetics Counselor
After looking to the web for information, the next step for many parents is to set up a physical exam. These exams need to be completed by a pediatrician, dermatologist, or pediatric dentist, or both. It may be one or a combination of these care providers who will make a diagnosis. The diagnosis will be based on the parts of the body which are affected. Most of the time the affected areas are,
- Skin or sweat glands.
Though they can be hard to find, a visit to a genetics counselor could confirm the diagnosis. As well as provide additional information for the family.
Even if you don’t get a diagnosis right away, another doctor might be able to piece together a diagnosis later on based on previous clinical observations. There are hundreds of types of ectodermal dysplasia syndromes that are not yet specifically named. There is a large population of our NFED community that do not get a specific diagnosis.
Support for Parents and Families
You have a support system with us if you suspect a baby or infant is affected by ectodermal dysplasia. We understand this is not the journey you planned on, but NFED will walk with you every step of the way.
Here are some ways to get support right now:
- Contact us to learn about choosing a doctor or dentist,
- Connect with other people that have been through this before, like another parent or someone living with ectodermal dysplasia,
- Download resources from our Library, like our Family Guide and “How Ectodermal Dysplasias Can Affect Growth.”
With small adjustments, babies and infants affected by ectodermal dysplasia syndromes can grow up to lead productive lives. They can attend school, get jobs and have families. Getting a diagnosis, or at least identifying different symptoms, is the first step to understanding treatment options. This will help you know how to best move forward.
What else would you like to know about diagnosis and children? What do you want others to know about this journey? We’d love to hear from you in the comments.