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Genetic and Rare Diseases Information Center (GARD)

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Ectodermal dysplasia


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Your Question

My husband's sister's son has a form of ectodermal dysplasia (problems with the skin, hair, sweat glands and teeth). No one else in my husband's family is affected. My husband and I don't have children yet. Is it possible that my husband is a carrier or that my future children could have the condition or be carriers? I'm very confused and worried.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How are ectodermal dysplasias inherited?

All of the ectodermal dysplasias are hereditary. They are caused by alterations (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.[1]

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 receive the abnormal gene and be affected, and a 50% chance that each female will receive the abnormal gene and be a carrier (like the mother). If a man has the abnormal gene, he will definitely 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 chromosome.[1]
  • Autosomal dominant: When the ectodermal dysplasia is an autosomal dominant form, the parent who is affected has a single copy of the abnormal 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 abnormal gene and be affected, and a 50% chance to not inherited the abnormal gene. All children who receive the abnormal gene will be affected.[1]
  • 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.[1] 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 abnormal copies of the causative 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 an abnormal copy of the gene. Usually, in this case, there is little chance that it will occur in another child of the same parents. However, the affected child may transmit the abnormal gene to future generations.[1]

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.
Last updated: 10/13/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.