ectodermal dysplasia syndromes

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.

Growing Concerns

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,

  • Hair,
  • Nails,
  • Teeth,
  • 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:

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.

27 comments on “Diagnosing Ectodermal Dysplasia Syndromes in Babies”

  1. 1
    Lyndsay Gordon on April 10, 2017

    Hi, my daughter who is almost age 3 has recently seen a development paediatrician due to speech delay however her nails, teeth and hair have been an ongoing issue. As soon as the paediatrician checked over her she suggested that she has this condition however we are awaiting blood results. I just wondered how long does it usually take to get diagnosed? Thank you

    1. 2
      Kelley on April 13, 2017

      Hi, Lyndsay. The time to receive results can vary. I’ve heard families say 8-12 weeks. It’s Lyndsay, please email me at Kelley@nfed.org and we can discuss additional scenarios for timeframe on diagnosis. ~Kelley

  2. 3
    granny on May 13, 2017

    My grandson a 3month old baby never perspire and has intermittent fever during hot days ..is it a positive sign of HED

    1. 4
      Jodi Edgar Reinhardt on May 15, 2017

      Hi, granny,

      It’s hard to say with a baby that small. The inability to perspire is just one symptom. To be an ectodermal dysplasia, there are two or more more symptoms. Learn more at https://www.nfed.org/learn/symptoms/. If you suspect there might be an issue with your grandson and his ability to perspire, we encourage you to discuss it with your pediatrician.

  3. 5
    Chiche on July 2, 2017

    The father of my
    daughter is missing 8 teeth my daughter is
    44years old , she is missing 19 teeth when we found out nobody pediatrician and dentist
    talk to us about it . So we figure it was genetic
    on her father side.Baby she use to have very high temperature . Can she be tested if she has
    ectodermal dysplasia .
    Today she has lost most of her baby teeth . She has also scleroderma with alot of health problems but could it be ectodermal dysplasia and not scleroderma. She need dental partial but her insurance will not pay for it , she is on desabilty and can’t pay for it . Can you give me some help
    thank you.

    1. 6
      Jodi Edgar Reinhardt on July 3, 2017

      Thank you for reaching out to us. Yes, we can provide information and support. Can you call our office at 618-566-2020? Our office is closed with the holiday but we reopen on July 5th. We hope that you will call so we can talk! We are here to help.

  4. 7
    destinee on August 14, 2017

    Hello, my name is destinee. & I have a 7 month old baby, I notice his cheeks get Rosy and he’s warm. His dad has EDD he has the hair nails and the sweat gland problems. Also, his brother has it and their dad has it. It runs through their side of the family. Now on my side of the family we do not have any of that. When should I start noticing those things with my baby? If he has it or he doesn’t?? He is 7 months old, no teeth yet..

    1. 8
      Jodi Edgar Reinhardt on August 15, 2017

      Hi, Destinee. You asked great questions! The best thing is for you to contact our NFED office at 618-566-2020 or info@nfed.org so we can walk you through all of the various scenarios. It’s typically more easily done on the phone. When you say “EDD,” what do you mean? Because there are 180+ different types of ectodermal dysplasia, I want to be sure and answer you based on the type that affects the dad’s family. Each type has its own set of symptoms so the answer may vary depending upon the type. Feel free to call us so we can help answer your questions! We are here to help. Jodi, National Foundation for Ectodermal Dysplasias

  5. 9
    Shamim on February 6, 2018

    My 1.5 yr son shows Edd symptoms and not diagnosed yet.now my wife is pregnant. Will the new born have edd??

    1. 10
      Jodi Edgar Reinhardt on February 6, 2018

      Hello, Shamim. Congratulations on your upcoming baby! We encourage you to consult a geneticist to determine if your new born will have the condition. There is genetic testing available for more than 60 types of ectodermal dysplasias. A geneticist will walk you through a family history, observe your 1.5 year old son and do a thorough exam to help determine which type your son has. How the condition is inherited depends upon which type affects him. The geneticist can help you determine the chances that your child to be could be affected and if a genetic test is available for that kind of ectodermal dysplasias. You can learn more at https://www.nfed.org/learn/diagnosis/ and https://www.nfed.org/learn/genetics-inheritance/. Hope this information is helpful. If you would like to talk further, call our office at 618-566-2020 and ask for Kelley. ~ Jodi, Director, Marketing and Communications, National Foundation for Ectodermal Dysplasias.

  6. 11
    Jaime on March 8, 2018

    Hi there! My name is Jaime, I am 21 years old. I have ectodermal dysplasias, I do have my baby teeth but I have a bridge meaning a retainer for my teeth, I had little of eye lashes, but luckily I have great, long beautiful hair. I am actually adopted from Vietnam! But I do have a question, are women who have ectodermal Dysplasias, are they able to produce kids? If I got married to a great man who doesn’t have any disabilities or anything like that. Would it affect my child?

    1. 12
      Jodi Edgar Reinhardt on March 12, 2018

      Hi, Jaime. Thank you for reaching out to us at the National Foundation for Ectodermal Dysplasias. Yes, women with ectodermal dysplasia can have children and yes, there is the possibility of passing the gene to a child. The chances of passing down the gene for your type of ectodermal dysplasia to a child depends on which of the 180+ different types affects you. You can learn more about getting a diagnosis here: https://www.nfed.org/learn/diagnosis/. Some types are passed down as x-linked recessive, others as autosomal dominant while others are autosomal recessive. You can learn more about these types here: https://www.nfed.org/learn/genetics-inheritance/. We suggest that you see a geneticist to help you determine which type affects you. The geneticist can also explain to you your chances of passing the gene to a child. Feel free to us at the NFED office at 618-566-2020 for more information. We are here to help. Jodi, Director, Marketing and Communications, National Foundation for Ectodermal Dysplasias.

    2. 13
      Jodi Edgar Reinhardt on March 12, 2018

      Also, if you haven’t yet, we recommend that you fill out this form on our website: https://www.nfed.org/join-us/ in order to get more information, access to programs and watch free educational workshop videos. Thanks!

  7. 14
    shela comet on March 9, 2018

    Hi my son been going through this his whole life he is only 2 years old doctors are just seeing that he has ectodermal dysplasia and we recently met with genetics but he has Medicaid and genetic says we still have to wait but I feel like we keep getting pushed back for the test he had no teeth sparse hair recurrent respiratory infections sinus infection he does not sweat I just want for him to get his test done is there any help with getting tested for them… I’m in miami Florida. A lot of doctors are not familiar with the disorder genetic says if Medicaid does not pay for the test I would have to it’s expensive.

    1. 15
      Kelley on March 12, 2018

      Hi, Shela. Thank you for posting your question. Please contact me at kelley@nfed.org so that I can provide you with additional information.

  8. 16
    Jordan Villaruel on March 18, 2018

    Hello, My name is Jordan Villaruel and I have two affected sisters. I am currently researching ED for my senior thesis. I emailed Jodi personally about a few days ago but I haven’t heard from her since. I was hoping to speak with someone on the phone as I do have a few questions.

    One of my questions is how does diagnosis via genetic testing in utero done?

    Thanks!

    1. 17
      Jodi Edgar Reinhardt on March 20, 2018

      Hi, Jordan. Because I work part time, I didn’t get your message right away. I’m glad we connected by phone and were able to talk through all of your questions! Genetic testing in utero is typically done through amniocentesis. It was great talking to you. Good luck on your senior thesis!

  9. 18
    Cyn on March 30, 2018

    Hello, I’m writing a paper on ED and I just have a question: Can someone with ED have children?

    1. 19
      Jodi Edgar Reinhardt on April 2, 2018

      Hi, Cyn. Thank you for the question. Yes, an individual affected by ectodermal dysplasia can have children. You can learn more about how an individual could pass on the gene for ectodermal dysplasias here: https://www.nfed.org/learn/genetics-inheritance/. Good luck on your project. Let us know if you have any other questions! Jodi Edgar Reinhardt, Director, Marketing and Communications, National Foundation for Ectodermal Dysplasias

  10. 20
    Jia on July 6, 2018

    Hi I’m 21 years old and I have nails different from normal people, also I had 6 fingers, one extra on each hand which I operated but my hair and skin and other parts are normal, how much chances are there for my children in future to get this disease??

    1. 21
      Jodi Edgar Reinhardt on July 7, 2018

      Hi, Jia. For you to find out what the chances are of having children with your same condition, you will need to see a geneticist. He/she will do a clinical exam, take a full history and then provide you with a diagnosis. They may or may not suggest genetic testing to confirm. It’s impossible for us to tell you what the chances are unless you knew the name of the exact condition that affects you. The ectodermal dysplasias have 180 different types and they can be passed down in different ways. Therefore, unfortunately, we can’t answer your question. You can learn about here: https://www.nfed.org/learn/diagnosis/ and https://www.nfed.org/learn/genetics-inheritance/. To be diagnosed with one of the ectodermal dysplasias, a physician or geneticist would look to see if your hair, sweat glands, teeth or skin were also abnormal in any way in addition to your nails. Good luck and let us know if you need any other information. Jodi, NFED Director, Marketing and Communication

  11. 22
    Alan on July 8, 2018

    Hello,

    I sent a email to info@nfed.org with some details and I was hoping to get a second opinion. My daughter is 8 weeks old and she seems to be showing signs of ED. We visited a geneticist who suspects she has ED. My daughter has a cleft palate and brownish/yellowish nails which seems to be less than birth. She does sweat, I can’t say if it’s normal amount or little. Another thing if I’m any way related, her nipples seem to be rather far apart.

  12. 23
    Nandini on October 9, 2018

    My daughter is 18 days now. I affected with ectodermal displacia . My baby got little eye brows. I am afraid if she get EDD . What to do. My husband does not know about my EDD. God please help me to come out my situation plz.

  13. 24
    Donna Garrett-Miller on June 23, 2019

    Hi, my name is Donna, my grandson was born in March 2019 with AEC. He has a significant cleft palate and skin erosions and no nails to speak of. Yet he gets scratches that seem to come out of nowhere and some bad looking. Is that normal for an AEC infant?

  14. 25
    Mary Fete on June 23, 2019

    Hi Donna,
    His skin is so fragile so I am not surprised he gets scratches and you don’t know how they happened. Can be his fingers, the bedding ect. that causes some friction. You just want to make sure you treat his skin very gently. Of course, you want to avoid injury to the skin but it will likely happen with normal day to day activities. Please call me if you want to talk about this more. Do these scratches heal easily?

  15. 26
    Julie Boyd on August 20, 2020

    Hi , I have a six year old daughter that has very bad body odor and has for years now she lost her first front tooth this year and the permanent tooth is growing in a small and pointed tooth. We also cut her hair in November of last year and it has hardly grow a inch. I have gone to the doctor about it but they just turn me away and say nothing is wrong. I came across this post and it ticked all the boxes. What do I do now? I’m very worried

    1. 27
      Jodi Edgar Reinhardt on August 24, 2020

      Hi, Julie. Thanks for reaching out with your questions. We encourage you to call Kelley Atchison at our office at 618-566-2020. She can help answer your questions and listen to your story. We are here to help! We also encourage you to read through the diagnosis and symptoms pages of our website to see if any of this information resonates with you. Hope to hear from you, Jodi, NFED, Marketing and Communications

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