Syndromes that can involve deafness
A syndrome is a medical term meaning a group of symptoms that are recognised to happen together. Sometimes there’s a clear and known cause of a syndrome (such as a genetic mutation). Sometimes the cause is not known.
As genetic research develops, lots of children are being identified as having a syndrome which scientists would not have recognised in the past.
About 1 in 3 children with genetic deafness have a syndromic cause. This means that they have, or may develop, other health conditions or symptoms.
There are over 400 syndromes associated with deafness (known as syndromic deafness). Most of them relatively rare. Aetiological testing (testing to find the cause of deafness) can be useful to find out whether your child has a syndrome. This information can help you plan for the future and watch out for any other symptoms your child might develop. It also makes it easier for doctors to provide medical treatments if needed.
With Robin’s Pendred syndrome, we’ve been told that any reduction in hearing levels can be progressive and permanent, so we’re constantly watching out for any changes. She’s also got to be careful about banging her head."
Emma is mum to Robin (4) who has moderate to severe hearing loss.
Julie talks about her experience of genetic testing with her son, Joshua. Joshua has CHARGE syndrome.
Understanding syndromic deafness
Permanent deafness in children is commonly caused by genetic changes.
Around 30% of children with genetic deafness have a medical condition or syndrome. Some syndromes can be identified at birth, such as Down’s syndrome. However, not all syndromes are immediately obvious.
If your child’s doctors believe their deafness could have a syndromic cause, they should offer you genetic testing. This testing can help you and the professionals working with your child to:
- identify whether your child’s deafness is part of a syndrome
- predict other symptoms your child might develop
- connect with other families experiencing the same symptoms
- get specialist support
- understand how the condition might affect your family in the future
For example, children with Usher syndrome usually become deaf at an early age and develop visual impairment over time. Knowing that your child has Usher syndrome can help you to make informed choices about things like communication and education. It will also make it easier to get referred to eye specialists.
Deciding whether to agree to genetic testing for your child is a personal choice. In most cases, even after genetic testing, it is not possible to identify why a child is deaf. This can be frustrating.
Find out more about genetic testing.
Common syndromes that involve deafness
Syndromes are often named after the first doctor who identified them. Below are some common syndromes that involve deafness.
Alport syndrome
A rare inherited disease that can cause kidney failure, deafness and eye abnormalities.
Alström syndrome
An ultra rare genetic condition affecting around 80 families in the UK.
Branchiootorenal (BOR) syndrome
A genetic condition affecting the ear and kidneys.
Individuals with branchiootic syndrome (BOS) have hearing loss, but their kidneys are not affected.
CHARGE syndrome
A rare condition that can affect different parts of the body, including the ears, eyes, heart, nose, genitals and growth.
Crouzon syndrome
A craniofacial condition which affects the shape of the face and head.
Down’s syndrome
Down’s syndrome happens when a baby is born with an extra chromosome. It can cause learning disability, developmental delays, and can affect other parts of the body including the heart, eyes and ears.
There are lots of organisations supporting children and families with Down’s syndrome. The largest charities are the Down’s Syndrome Association and Down Syndrome UK.
Goldenhar syndrome
A condition which usually affects one side of the face and can also affect other body parts, including the spine.
Jervell and Lange Nielsen syndrome (JLNS)
A form of long QT syndrome affecting the heart and hearing.
Find out more about long QT syndromes on the Cardiac Risk in the Young (CRY) website.
Pendred syndrome
A rare genetic disorder which causes progressive hearing loss and can cause an enlarged thyroid gland and balance problems.
Pfeiffer syndrome
A craniofacial disorder that can affect hearing, vision, breathing, feeding and cognitive development.
Stickler syndrome
A connective tissue disorder which commonly affects the eyes, ears, joints and face. There are at least 11 types of Stickler syndrome.
Treacher Collins syndrome
A craniofacial condition which affects the shape of the face and skull, commonly causing microtia and atresia.
Get support from the Treacher Collins Family Support Group (Facebook group).
Usher syndrome
A rare genetic condition which causes hearing loss and progressive vision loss and may also cause problems with balance. There are 3 main clinical types of Usher syndrome which affect people in different ways.
Waardenburg syndrome
A group of genetic conditions which mainly cause hearing loss and changes in pigmentation (colouring) of the hair, skin and eyes. Children with Waardenburg syndrome often have bright blue eyes and a patch of white hair on the forehead (known as a white forelock).
There are 4 known types of Waardenburg syndrome. In rare cases, the syndrome can affect the heart and gastrointestinal system.
Wolfram syndrome
A rare genetic disorder which causes diabetes, deafness and optic atrophy (which causes vision loss). Wolfram syndrome can also affect other parts of the body, including the central nervous system, gastrointestinal system, urogenital system and peripheral nervous system.
There are 3 known types of Wolfram Syndrome.
Rare genetic syndromes
As genetic testing has become more widely available, an increasing number of children are identified as having very rare conditions. In fact, each year, around 6,000 children are born in the UK with a syndrome so rare that it does not have a name.
If your child has been diagnosed with a rare condition, or you’ve been told your child’s syndrome is so rare that it does not have a name, you might feel you’ve been left with more questions than answers. You might be worried about the future and confused about what this means for your child.
Even if your child is the one of the only people with their condition, there are lots of other families in your situation and organisations who can help.
- Genetic Alliance UK is a charity providing information, advice and support for families and individuals affected by genetic disorders.
- SWAN UK is a network run by Genetic Alliance UK, which offers support for families affected by a syndrome without a name.
- Gene People is a network providing support for families living with genetic conditions. They provide a free helpline led by genetic counsellors and may also be able to put you in touch with other families of children with the same condition.
- Social media can be a great way to connect with other families whose children have the same genetic condition. Try searching the condition on Facebook to see if there’s already a group set up for families like yours, or create your own.
Full references for this webpage are available by emailing
informationteam@ndcs.org.uk