Ectodermal Dysplasia

Overview

Ectodermal dysplasias (ED) are disorders that affect the skin, sweat glands, hair, teeth, and nails. Some individuals with ED may also have cleft lip and/or palate. ED can additionally cause problems with the immune system as well as hearing and vision.

More than 180 specific types of this condition have been identified.

Ectodermal dysplasias occur when the outer layer of tissue (ectoderm) of the embryo does not develop normally. If two or more body structures derived from the ectoderm are affected, a person is considered to have ED.

ED is a rare disease, defined in the U.S. as a condition that affects fewer than 200,000 people.

Causes

Ectodermal dysplasias are caused by a change, or mutation, in a gene. ED can be passed on from parents or can occur when there is no family history of the condition.

Parents should know they did not do anything to cause the gene mutation that is present in a child with ED.

Symptoms

Ectodermal dysplasias have a variety of signs and symptoms, which can differ depending on the type of ED. Signs and symptoms can vary even among members of a family who have the same type of ED. Mouth problems related to ED may include:

Thinner or softer-than-average tooth enamel, which may lead to an increase in tooth decay (cavities).
Missing; pointed, globe-shaped or smaller-than-normal teeth, or teeth that are widely spaced.
Abnormally positioned teeth and jaw.
Reduced saliva, leading to dry mouth.
Cleft lip or palate.

Diagnosis

Diagnosing ectodermal dysplasia is not always easy, and confirming a diagnosis may require consulting with several health care professionals. The condition is commonly suspected by a dentist when a child’s teeth do not come in or the teeth appear to have an irregular shape. The dentist will look at your child’s mouth to observe whether there are any missing teeth or problems with tooth enamel. The dentist may also take x-rays to see if there are teeth that have not yet come in.

If the dental exam suggests ectodermal dysplasia, the dentist will refer you to a medical geneticist or a doctor with experience in ectodermal dysplasias to confirm the diagnosis. In some cases, a genetic test may help diagnose ED.

Having an accurate diagnosis will help you get the right team of health care professionals in place to manage the condition.

Treatment

Treatment depends on your child’s age. Some treatments can be done only when the head, jaw, and face are finished growing.

Treatment for younger children can include partial or full dentures. For older children, restorations such as crowns or veneers to cover teeth or dental implants may be recommended. The goal of treatment is to restore the function of the teeth and mouth as much as possible early in the child’s life.

Treatment is usually done in stages because the child’s face and jaw are growing and primary (baby) teeth will be replaced, over time, by permanent (adult) teeth. As your child’s mouth grows and permanent teeth erupt, recommendations for other types of treatment may be made, such as the need for orthodontia (braces) to correct the position of the teeth and assure their proper function. The dentist will need to check your child’s mouth and teeth regularly to make sure that any needed adjustments are made as your child grows.

More permanent solutions are recommended for adults with ectodermal dysplasia, including fixed tooth restorations, such as dental implants. Oral surgery may also be recommended to improve the shape of the dental arches and correct related issues within the mouth.

Helpful Tips

If you have a family history of ectodermal dysplasia and are planning to have children, talk to your doctor about whether genetic counseling may be helpful.
If you are an adult with ED, remember your treatment and care should continue throughout life.

If your child has ED:

If you think your child may have ectodermal dysplasia because some teeth are missing or not developing normally, see a dentist or doctor to discuss your concerns.
Seek treatment early for dental and oral health issues. Early treatment can help your child’s speech, eating, and appearance.
Be sure your child sees the dentist regularly. This allows the dentist to check your child’s mouth and make any needed adjustments to treatment as your child grows.
Help your young child brush his or her teeth and clean any dentures.
Ask the dentist about the best oral hygiene routine for your child, whether fluoride is recommended to prevent tooth decay (cavities), and how often s/he should visit the dentist.
Find advocacy groups for individuals with ED and their families. These groups can provide information on the condition, as well as direct you to resources and services in your community.

Additional Resources

GARD: Ectodermal Dysplasia
Information from the Genetic and Rare Diseases Information Center, part of the NIH’s National Center for Advancing Translational Sciences.
MedlinePlus: Ectodermal Dysplasias
The NIH National Library of Medicine's collection of links to government, professional, and non-profit/voluntary organizations with information on ED.
MedlinePlus: Genetic Conditions
A website from the NIH National Library of Medicine that lists the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. Search the alphabetical list by condition name.
National Foundation for Ectodermal Dysplasias
Information from the National Foundation for Ectodermal Dysplasias (NFED), the only advocacy organization in the U.S. dedicated to those living with these disorders. NFED seeks to empower and connect those touched by ED through education, support, and research.
National Organization for Rare Disorders
Information, links to support, and news about medical breakthroughs for patients and their families, advocacy organizations, health professionals, and others involved with rare diseases.