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.

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.

Ectodermal dysplasias are genetic disorders, which means that they can be passed on from affected people to their children. They are caused by mutations in various genes; the mutations may be inherited from a parent, or normal genes may become mutated at the time of egg or sperm formation, or after fertilization. The risk for parents to have an affected child depends on the inheritance pattern of the specific type of ectodermal dysplasia with which the individual in the family has been diagnosed. Thus, a family affected by an ectodermal dysplasia should consider speaking with a geneticist or a genetic counselor for a better understanding of the specific ectodermal dysplasia and the probabilities or risks that the ectodermal dysplasia will occur in any future pregnancy.

The different types of inheritance patterns that occur depending on the specific type of ectodermal dysplasia in the family include x-linked recessive, autosomal dominant, and autosomal recessive.

• X-linked recessive: If a woman is a carrier of an x-linked recessive form, there is a 50% chance that each of her male children will inherit the mutated gene and be affected, and a 50% chance that each female will inherit the mutated gene and be a carrier (like the mother). If a man has the mutated gene, he will be affected and will also pass the gene on to all of his daughters, who will be carriers. Since the gene is on the X chromosome, his sons will not be affected because they receive the man’s Y.
• Autosomal dominant: When the ectodermal dysplasia is an autosomal dominant form, the parent who is affected has a single copy of the mutated gene (which is sufficient to cause the disorder in any autosomal dominant condition) and may pass it on to his or her children. Regardless of the gender of the parent or the child, there is a 50% chance for each child to receive the mutated gene and be affected, and a 50% chance to not inherited the mutated gene. All children who receive the mutated gene will be affected.
• Autosomal recessive: When the ectodermal dysplasia in the family is an autosomal recessive form, the usual situation is that each parent is unaffected, but likely has one mutated copy of the gene and one normal copy of the gene. They are said to be carriers. Carriers do not typically show signs and symptoms of an autosomal recessive condition. When two parents who are carriers have children, with each pregnancy there is a 25% (1 in 4) risk for the child to have the condition, a 50% (1 in 2) risk for the child to be an unaffected carrier like each of the parents, and a 25% chance for the child to not have the condition AND not be a carrier (and therefore not pass the mutation on to future generations). To be affected with an autosomal recessive condition, an individual must have two mutated copies of the disease-causing gene.

Sometimes, when an individual is the first person in a family to be affected with an ectodermal dysplasia, it is because a new mutation occurred in that individual, and neither of the parents carry a mutated copy of the gene. Usually, in this case, there is little chance (about 1%) that it will occur in another child of the same parents. However, the affected child may transmit the disease-causing gene to future generations. It is also important to know that even in families and individuals who have the exact same mutation, there can be variability in how the condition affects each family member.

Individuals who have questions about their own genetic risks or status, or risks to current and future family members, should speak with a genetics professional.

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.

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 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.

• 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.