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Genetics, hearing loss and rare diseases Sometimes hearing loss is inherited or part of a genetic syndrome Contributed by Temma Ehrenfeld, and Joy Victory, managing editor, Healthy Hearing Last updated February 11, 20262026-02-11T00:00:00-06:00 Key points: Hearing loss often runs in families, indicating that it can be inherited. Many rare syndromes, including some genetic conditions, also cause hearing loss. Speak with a local hearing specialist if you have questions or concerns about hearing loss. Some types of hearing loss are the result of aging or noise damage, but it also can be inherited in a number of ways. In some cases, it's just the hearing loss that's inherited. In other situations, hearing loss may be just one of part of a more complex genetic condition. Hearing loss often run in families Family history can sometimes reveal an inherited pattern of hearing loss. Age-related hearing loss Turns out that, yes, hearing loss—including age-related hearing loss—is influenced by your genes. In other words, you can inherit an increased risk of hearing loss as you get older. While more research is needed, a large study of 376 Caucasian families found that "genetic factors play a large role in age-related hearing loss." Otosclerosis Not as common, otosclerosis is the abnormal bone growth of the middle ear, which usually affects the stapes bone. Symptoms of the disorder include gradual hearing loss, most often difficulty hearing low-pitched sounds. Others may experience dizziness, balance issues or tinnitus. The odds of developing otosclerosis vary depending upon the family’s history with the disease and is often passed down from parent to child. Children who have one parent with otosclerosis have a 25 percent chance of developing the disease. The risk rises to 50 percent if both parents have the disease. White, middle-aged women are most at risk. The disorder typically causes conductive hearing loss, which can often be corrected with surgery. Less commonly, otosclerosis causes damage to the sensory cells and nerve fibers in the inner ear, causing sensorineural hearing loss. Many rare diseases can cause hearing loss Scientists have identified 7,000 diseases that are considered rare. As defined in the U.S by the Orphan Drug Act of 1983, rare diseases each affect fewer than 200,000 people. However, up to 30 million Americans live with a rare disease. Some of these are inherited, and some have no known genetic cause. At least 400 of these rare syndromes include hearing loss as a symptom, according to BabyHearing.org. They can lead to different types of hearing loss, the main types being sensorineural and conductive. At least 400 rare syndromes include hearing loss as a symptom. Some of these syndromes can be inherited, and others have no known genetic cause. The degree of loss can vary widely from person to person. For some people, hearing aids will be sufficient. For others, cochlear implants and/or learning speechreading and American Sign Language will be recommended. In many cases, a rare disease can cause multiple anatomical and functional changes in the ears, requiring surgery. Some start in infancy Babies with Mondini dysplasia, for example, are born with one and a half coils in the cochlea instead of the standard two, in either one or both ears. Most children with this condition have profound hearing loss. They may need a surgical repair, as well as a cochlear implant, but some can benefit from hearing aids. Babies with KID syndrome, Donnai-Barrow syndrome, and Wildervanck syndrome—among other rare diseases—may have hearing loss. Sometimes the loss is not present at birth but develops soon after. Babies with the most common and severe form of Krabbe disease develop symptoms in the first six months, which include fevers, muscle weakness and hearing and vision loss. Some diseases surface later in childhood And sometimes, the hearing loss comes much later. People with Myhre syndrome or Alport syndrome, for example, often lose hearing in late childhood or early adolescence and may be treated with hearing aids. Similarly, people with Alström syndrome tend to have progressive hearing loss in both ears that may begin in childhood and be treated with hearing aids. Turner syndrome: Frequent ear infections can be a clue Parents of girls who don’t appear to be developing at the same rate as their peers and who experience frequent ear infections may want to ask their family doctor about Turner syndrome, a rare genetic condition which affects one out of every 2,000 to 4,000 female births. Early diagnosis is key, as those affected have higher incidences of hearing loss, heart, liver and kidney abnormalities and autoimmune disorders. How Turner syndrome affects hearing Girls and women with Turner syndrome have a high prevalence of problems with their hearing and should be evaluated frequently. Hearing health problems that can occur include: Chronic infections of the middle ear, although this risk decreases with age and is almost absent by adolescence. Cholesteatoma can be more prevalent among girls with Turner syndrome due to frequent ear infections. While these cyst-like growths are not malignant, they can cause further hearing complications, trouble with balance and dizziness and even meningitis if left untreated. Conductive hearing loss among those with Turner syndrome is estimated to be as high as 80 percent, mainly due to problems with the Eustachian tube and the high incidence of chronic ear infections. Although the condition is not progressive, it can interfere with speech and language development when left untreated. Sensorineural hearing loss (SNHL) appears in late childhood/early adulthood and affects as many as 90 percent of this population. SNHL is progressive, meaning the hearing loss generally gets worse over time. Pendred syndrome Children who develop hearing loss may have Pendred syndrome, a genetic disorder inherited from the parents that may also include balance and thyroid problems. Families with medical histories of early hearing loss or those with a history of goiters and hearing loss may be carriers of the mutated gene causing this recessive trait. According to the National Institutes of Deafness and Other Communication Disorders (NIDCD), this disorder accounts for five to ten percent of all inherited hearing loss. An otolaryngologist can diagnose Pendred syndrome. Although there is no cure, it can be treated. Depending on the severity of the hearing loss, the affectec person may benefit from wearing hearing aids or receiving a cochlear implant. Usher syndrome Usher syndrome includes three types of hearing loss, depending on the onset and severity of symptoms. People who have hearing loss and retinitis pigmentosa (RP), an eye disease, may have a disorder known as Usher syndrome. According to NIDCD, Usher syndrome accounts for 50 percent of hereditary deaf-blindness cases, a type of dual-sensory impairment. There are three types of Usher syndrome, each inherited as an autosomal recessive disorder from the parents: Type 1: Those with Type 1 Usher syndrome are born with profound hearing loss or deafness and severe balance problems. Type 2: Those with Type 2 Usher syndrome are born with moderate to severe hearing loss and normal balance. RP is usually diagnosed in late adolescence. Type 3: Those with Type 3 Usher syndrome are born with normal hearing and balance, with loss of hearing and vision beginning to develop in adolescence. Although there is no cure for Usher syndrome, its symptoms can be treated or managed. Treatment for hearing loss may include hearing aids or cochlear implants along with assistive listening devices and auditory training. Other rare diseases linked to hearing loss Many rare disorders can include hearing loss as a symptom. Some examples include: Auditory neuropathy spectrum disorder can appear at any age. Although it runs in some families, it can occur in people with no family history. In this disorder, signals from the inner ear to the brain are not transmitted properly, which leads to mild to severe hearing loss. Waardenburg syndrome is a group of six genetic conditions that in at least 80 percent of patients involves hearing loss or deafness. People with this syndrome may also have pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or gray hair early in life. Vogt-Koyanagi-Harada disease is an autoimmune disease that causes chronic inflammation of melanocytes, specialized cells that give skin, hair, and eyes their color. Because melanin occurs in the inner ear as well, the early symptoms of Vogt-Koyanagi-Haradi disease may include distorted hearing (dysacusis), ringing in the ears (tinnitus), and a spinning sensation (vertigo). Although most people with this illness eventually develop hearing loss, it may be mild enough to manage with hearing aids. In Cogan's syndrome, similarly, the immune system attacks the tissues of the eyes and inner ears. For more information Although the above disorders are rare, it’s important to know your family’s hearing health history and share it with your family physician as well as your hearing healthcare professional. For more information on rare diseases, see the National Organization for Rare Disorders (NORD). Temma Ehrenfeld Temma Ehrenfeld is an award-winning journalist who covers psychology and health. Her work has appeared in major newspapers, magazines and websites. Joy Victory, managing editor, Healthy Hearing Joy Victory has extensive experience editing consumer health information. Her training in particular has focused on how to best communicate evidence-based medical guidelines and clinical trial results to the public. She strives to make health content accurate, accessible and engaging to the public. Read more about Joy. Related Help Pages: Hearing loss Causes Treatment Children's hearing loss Hearing aids Children's hearing aids

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Genetics, hearing loss and rare diseases

Sometimes hearing loss is inherited or part of a genetic syndrome

Contributed by Temma Ehrenfeld, and Joy Victory, managing editor, Healthy Hearing
Last updated February 11, 20262026-02-11T00:00:00-06:00

Key points:

Hearing loss often runs in families, indicating that it can be inherited.
Many rare syndromes, including some genetic conditions, also cause hearing loss.
Speak with a local hearing specialist if you have questions or concerns about hearing loss.

Some types of hearing loss are the result of aging or noise damage, but it also can be inherited in a number of ways. In some cases, it's just the hearing loss that's inherited. In other situations, hearing loss may be just one of part of a more complex genetic condition.

Hearing loss often run in families

A mother, daughter and grandmother gather together. — Family history can sometimes reveal
an inherited pattern of hearing loss.

Age-related hearing loss

Turns out that, yes, hearing loss—including age-related hearing loss—is influenced by your genes. In other words, you can inherit an increased risk of hearing loss as you get older.

While more research is needed, a large study of 376 Caucasian families found that "genetic factors play a large role in age-related hearing loss."

Otosclerosis

Not as common, otosclerosis is the abnormal bone growth of the middle ear, which usually affects the stapes bone. Symptoms of the disorder include gradual hearing loss, most often difficulty hearing low-pitched sounds. Others may experience dizziness, balance issues or tinnitus.

The odds of developing otosclerosis vary depending upon the family’s history with the disease and is often passed down from parent to child. Children who have one parent with otosclerosis have a 25 percent chance of developing the disease. The risk rises to 50 percent if both parents have the disease. White, middle-aged women are most at risk.

The disorder typically causes conductive hearing loss, which can often be corrected with surgery. Less commonly, otosclerosis causes damage to the sensory cells and nerve fibers in the inner ear, causing sensorineural hearing loss.

Many rare diseases can cause hearing loss

Scientists have identified 7,000 diseases that are considered rare. As defined in the U.S by the Orphan Drug Act of 1983, rare diseases each affect fewer than 200,000 people. However, up to 30 million Americans live with a rare disease.

Some of these are inherited, and some have no known genetic cause.

At least 400 of these rare syndromes include hearing loss as a symptom, according to BabyHearing.org. They can lead to different types of hearing loss, the main types being sensorineural and conductive.

At least 400 rare syndromes include hearing loss as a symptom. Some of these syndromes can be inherited, and others have no known genetic cause.

The degree of loss can vary widely from person to person. For some people, hearing aids will be sufficient. For others, cochlear implants and/or learning speechreading and American Sign Language will be recommended. In many cases, a rare disease can cause multiple anatomical and functional changes in the ears, requiring surgery.

Some start in infancy

Babies with Mondini dysplasia, for example, are born with one and a half coils in the cochlea instead of the standard two, in either one or both ears. Most children with this condition have profound hearing loss. They may need a surgical repair, as well as a cochlear implant, but some can benefit from hearing aids. Babies with KID syndrome, Donnai-Barrow syndrome, and Wildervanck syndrome—among other rare diseases—may have hearing loss.

Sometimes the loss is not present at birth but develops soon after. Babies with the most common and severe form of Krabbe disease develop symptoms in the first six months, which include fevers, muscle weakness and hearing and vision loss.

Some diseases surface later in childhood

And sometimes, the hearing loss comes much later. People with Myhre syndrome or Alport syndrome, for example, often lose hearing in late childhood or early adolescence and may be treated with hearing aids. Similarly, people with Alström syndrome tend to have progressive hearing loss in both ears that may begin in childhood and be treated with hearing aids.

Turner syndrome: Frequent ear infections can be a clue

Parents of girls who don’t appear to be developing at the same rate as their peers and who experience frequent ear infections may want to ask their family doctor about Turner syndrome, a rare genetic condition which affects one out of every 2,000 to 4,000 female births. Early diagnosis is key, as those affected have higher incidences of hearing loss, heart, liver and kidney abnormalities and autoimmune disorders.

How Turner syndrome affects hearing

Girls and women with Turner syndrome have a high prevalence of problems with their hearing and should be evaluated frequently. Hearing health problems that can occur include:

Chronic infections of the middle ear, although this risk decreases with age and is almost absent by adolescence.
Cholesteatoma can be more prevalent among girls with Turner syndrome due to frequent ear infections. While these cyst-like growths are not malignant, they can cause further hearing complications, trouble with balance and dizziness and even meningitis if left untreated.
Conductive hearing loss among those with Turner syndrome is estimated to be as high as 80 percent, mainly due to problems with the Eustachian tube and the high incidence of chronic ear infections. Although the condition is not progressive, it can interfere with speech and language development when left untreated.
Sensorineural hearing loss (SNHL) appears in late childhood/early adulthood and affects as many as 90 percent of this population. SNHL is progressive, meaning the hearing loss generally gets worse over time.

Pendred syndrome

Children who develop hearing loss may have Pendred syndrome, a genetic disorder inherited from the parents that may also include balance and thyroid problems. Families with medical histories of early hearing loss or those with a history of goiters and hearing loss may be carriers of the mutated gene causing this recessive trait. According to the National Institutes of Deafness and Other Communication Disorders (NIDCD), this disorder accounts for five to ten percent of all inherited hearing loss.

An otolaryngologist can diagnose Pendred syndrome. Although there is no cure, it can be treated. Depending on the severity of the hearing loss, the affectec person may benefit from wearing hearing aids or receiving a cochlear implant.

Usher syndrome

Usher syndrome includes three types of hearing loss, depending on the onset and severity of symptoms.

People who have hearing loss and retinitis pigmentosa (RP), an eye disease, may have a disorder known as Usher syndrome. According to NIDCD, Usher syndrome accounts for 50 percent of hereditary deaf-blindness cases, a type of dual-sensory impairment.

There are three types of Usher syndrome, each inherited as an autosomal recessive disorder from the parents:

Type 1: Those with Type 1 Usher syndrome are born with profound hearing loss or deafness and severe balance problems.
Type 2: Those with Type 2 Usher syndrome are born with moderate to severe hearing loss and normal balance. RP is usually diagnosed in late adolescence.
Type 3: Those with Type 3 Usher syndrome are born with normal hearing and balance, with loss of hearing and vision beginning to develop in adolescence.

Although there is no cure for Usher syndrome, its symptoms can be treated or managed. Treatment for hearing loss may include hearing aids or cochlear implants along with assistive listening devices and auditory training.

For more information

Although the above disorders are rare, it’s important to know your family’s hearing health history and share it with your family physician as well as your hearing healthcare professional.

For more information on rare diseases, see the National Organization for Rare Disorders (NORD).

Temma Ehrenfeld

Temma Ehrenfeld is an award-winning journalist who covers psychology and health. Her work has appeared in major newspapers, magazines and websites.

Joy Victory, managing editor, Healthy Hearing

Joy Victory has extensive experience editing consumer health information. Her training in particular has focused on how to best communicate evidence-based medical guidelines and clinical trial results to the public. She strives to make health content accurate, accessible and engaging to the public. Read more about Joy.

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