Genetics can play a role in hearing differences, which can include being Deaf, hard of hearing, or having a range of hearing abilities. We understand that every individual and family experiences them differently.
This page is for families who want to learn how genetics may influence hearing differences. You’ll also find information on genetic services, what to expect during a genetic counseling visit, and resources for support.
Why We Say “Hearing Differences”
People who are deaf or hard of hearing (DHH) may prefer using different terms to describe themselves. On this page, we use “hearing differences” or “hearing status” when possible. The term “hearing loss” appears only when discussing certain medical topics.
We recognize that:
- For some people, hearing differences are part of their cultural identity and community.
- Others may focus on their health or medical aspects.
- There’s no single way to experience or talk about hearing differences.
Our goal is to respect each person’s experience and help families make informed choices.
Genetic services can sometimes help explain the cause of hearing differences. They are a part of the many tools health care providers can use to give individuals and families information to guide their health care decisions.
What to Know About Genetics and Hearing Differences
In Washington, 1 to 3 out of every 1,000 infants are born deaf or hard of hearing. Genetics plays a role in about 80% of hearing loss present at birth (prelingual deafness).
The 2 main categories of genetic hearing loss are:
- Nonsyndromic: Hearing loss that occurs by itself, with no other health concerns. About 70% of genetic hearing loss is nonsyndromic.
- Syndromic: Hearing loss that happens with other medical conditions linked to a common genetic change. About 30% of genetic hearing loss is syndromic.
More than 600 syndromes can cause hearing differences. Each has its own features that may require additional medical care.
A genetic evaluation can help determine if your child’s hearing difference is part of a syndrome. While a genetic evaluation is optional, this information can help:
- Better understand why your child is deaf or hard of hearing
- Learn if it can affect other areas of your child’s health
- Possibly guide future medical decisions
Find a genetic provider near you: WA State Genetic Clinics
Preparing for Genetic Counseling
What Is Genetic Counseling?
Genetic counseling is a conversation with a health care provider who has specialized training in genetics. In this appointment, you can:
- Talk about your goals for the visit
- Share your child’s and family’s medical history
- Learn about relevant and available genetic testing options and how to maximize the chances of diagnosis
- Discuss the benefits and limitations of genetic testing
- Decide whether genetic testing is right for your family.
If a genetic diagnosis is made, your provider may recommend long-term follow-up in some cases.
Learn more about genetic counseling and testing considerations through the Hands and Voices parent guide.
How To Prepare
Collect Your Family Health History
While you’re waiting for genetic counseling, gather your family health history (FHH). This typically includes at least 3 generations from both sides of the family – children, parents, siblings, aunts, uncles, and grandparents.
Sharing your family’s health history can help your provider understand if a hearing loss might have a syndromic cause. Visit our Family Health History page for more information and guidance.
Common Genetic Syndromes Related to Hearing Loss
Below are some examples of syndromes that include hearing loss, along with key features that may be present in a family history.
| Syndrome | Prevalence | Key features (besides hearing loss) |
|---|---|---|
| Alport syndrome | Every 5,000 to 50,000 births | Progressive kidney disease and eye conditions |
| Every 40,000 births | Neck masses or pits, and kidney malformations | |
| CHARGE syndrome | Every 8,500 to 15,000 births | Coloboma (an eye condition), congenital heart defects, and developmental delay |
| Jervell and Lange-Nielsen syndrome | Every 200,000 births | Sudden cardiac death due to abnormal QT interval (a heart rhythm disorder) |
| Neurofibromatosis Type 2 | Every 50,000 births | Development of benign tumors on nerves and vision problems due to cataracts and retinal differences |
| Pendred syndrome | Every 14,000 births | Thyroid enlargement (goiter) usually occurs in adolescence or adulthood |
| Stickler syndrome | Every 7,500 to 10,000 births | Characteristic facial features, eye problems, and joint issues such as hypermobility or arthritis |
| Treacher Collins syndrome | Every 50,000 births | Characteristic facial features and potential breathing difficulties due to facial bone structure differences |
| Usher syndrome | Every 20,000 births | Progressive vision loss, typically night blindness and loss of peripheral vision |
| Waardenburg syndrome | Every 20,000 to 40,000 births | Characteristic facial features, pigmentation changes to skin or hair (white forelock), often very pale blue eyes or eyes that are different colors |
Remember: the most common type of hearing loss is nonsyndromic, which means there are no other medical features. However, even if there are no other features or family history, that doesn’t mean a genetic cause of hearing loss isn’t at play.
Preparing Your Questions
It can help to think about your questions before your visit to make sure the genetic provider addresses your concerns. A genetic provider can talk through what this means for your family. Below are some common questions to consider.
- What are the benefits of a genetic evaluation for hearing differences?
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A genetic evaluation may:
- Help explain why a child is deaf or has a hearing difference. A genetic evaluation can provide some clarity for families seeking answers, though it may not offer all the information needed for navigating being DHH.
- Identify possible links to other health concerns, including vision loss, heart disease, or developmental delays.
- Offer clues about whether a child’s hearing might change over time.
- Inform decisions about the likelihood of having another child with a hearing difference.
- Connect families to resources like syndrome-specific supports, Deaf mentors, or American Sign Language (ASL) developmental programs.
- What are the limitations?
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Below are some reasons families may not want a genetic evaluation:
- Some families may feel that genetic testing isn’t necessary or doesn’t align with how they view being deaf or hard of hearing. Many in the Deaf community do not consider being Deaf as something to be fixed or explained.
- Not all causes of hearing differences are genetic or clear. Sometimes, genetic testing may not identify a cause, even if it exists. Testing technology is still evolving, and not all genes are known.
- Insurance coverage varies. Talk to your provider and insurance plan about possible costs.
- U.S. laws like the Genetic Information Nondiscrimination Act and HIPAA protect privacy and discrimination against health insurance, and employment. But these laws do not apply to life, disability, or long-term care insurance.
- Will genetic testing or results affect my child’s access to services?
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No. Children who are deaf or hard of hearing can qualify for birth-3 Early Support and Intervention Services regardless of genetic test results.
- Will this tell us how my child will communicate?
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No. Genetics does not determine how your child will communicate. Each family chooses their communication goals, including language, identity, culture, and communication style. Providers can help you understand other needs that should be supported and connect you to speech-language therapists or early learning services. A child with a hearing difference may grow up using spoken language, sign language, or both.
- Will my child's hearing change over time?
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Sometimes, genetic testing can provide information to help understand whether a child’s hearing difference might stay the same or change. This can help families plan ahead and make sure that all the necessary supports are in place.
- Will there be ASL services at our appointment?
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Most genetic clinics offer interpreter services. If you or your child use ASL or another language, contact the clinic ahead of time to confirm your needs are noted in your chart.
Resources
General Information and Family Support
- Early Hearing Diagnosis and Detection Program Publications
- WA Early Support for Infants and Toddlers (ESIT) offers support and early intervention services for children from birth to age 3, including developmental support for children who are Deaf or hard of hearing.
- Centers for Disease Control (CDC) Parent’s Guide to Hearing Loss covers signs of hearing loss, screening, and early intervention services.
- Baby’s First Test – Hearing Loss provides newborn hearing screening information, early intervention guidance, and tips for navigating diagnosis and next steps.
- Hands and Voices is a parent-led organization that supports families of children who are Deaf or hard of hearing. Learn more about their WA chapter.
- Washington State Hands and Voices Guide by Your Side Program pairs families with a trained parent guide who has experience raising children who are Deaf or hard of hearing.
- American Society of the Deaf focuses on language and communication access through mentoring, resources, and collaborative networks.
Genetic and Hearing Differences
- Genetics of Early Childhood Hearing Loss (babyhearing.org)
- Understanding the Genetics of Deafness. A Guide for Patients and Families (Harvard Medical School)
- Why Should I Get Genetic Testing If I Already Have a Diagnosis? (National Organization of Rare Diseases)
- Genetic Program Information and Resources (Washington State Department of Health)
Contact Information
- EHDDI team for help with hearing loss-related information and services.
- Genetic Services team team for genetic-related information and services.