Hearing Loss: The Genetic Link P2

Part Two of Two

In part one of this two-part article we went over the science of how you can inherit a disorder that could lead to hearing loss. While inheriting a mutated gene cannot be avoided, it always valuable to know the facts, especially if you are a carrier.

Disorders linked to hearing loss

Inherited hearing loss can be conductive (middle ear/ossicle), sensorineural (inner ear/nerve path to the brain), or a combination of both. The symptoms can be syndromic (hearing loss with other complications) or non-syndromic (just hearing loss). The big question is, what are some of the major genetic disorders/syndromes that cause hearing loss?

Ostosclerosis – abnormal growth of the of the ossicles (tiny bones in the middle ear) into a single mass that limits their ability to transmit sound. It can progress to sensory or mixed hearing loss in certain cases.

Usher Syndrome – Differentiated by type (type I, II and III), it is a disorder characterized by partial or total hearing loss and vision. It usually worsens over time.

Pendred Syndrome – Linked with hearing loss and a thyroid condition called a goiter (visible swelling of the thyroid gland). Severe to profound hearing loss is usually apparent at birth, but in some cases hearing loss won’t develop until late infancy or early childhood.

Jervell and Lange-Nielsen Syndrome – Causes severe to profound hearing loss at birth and an abnormal heart rhythm. The irregular heartbeats strengthen the risk of fainting spells and could even cause sudden death.

Waardenburg Syndrome – Causes pigment changes of the hair, skin, and eyes. While many people with this syndrome have normal hearing, hearing loss in one or both ears can occur.

Alport Syndrome – Causes a progressive loss of kidney function. People also experience eye abnormalities and sensorineural hearing loss that could develop during late childhood or early adolescence. Significant hearing loss is more common in males with this syndrome.

Stickler Syndrome – Causes underdeveloped bones in the face, hearing loss, and joint problems. Hearing loss can vary and become more severe over time.

Neurofibromatosis Type II – Causes tumor growth in the nervous system that develops along the auditory nerve. The most frequent early signs are hearing loss, ringing of the ears, and issues with balance. Symptoms can start as early as adolescence.

Branchio-Oto-Renal (BOR) Syndrome – A condition that disrupts the development of tissues in the neck and causes abnormalities in the ears and kidneys. Most people with this syndrome have hearing loss and other ear complications

Treacher Collins Syndrome – Affects the development of facial bones and tissues. About half of the people affected with this syndrome develop hearing loss due to defects in the middle ear.


What Can You Do?

When it comes to genetic hearing loss, the first thing you can do is choose education over discouragement. Thanks to advancements in technology, many hearing aid options are now available to compensate for your hearing loss. Consulting a hearing care professional is the best way to find out what can be done to ease your symptoms or help you protect the hearing you have for as long as possible.