Waardenburg syndrome is a genetic condition that affects the color of your hair, skin, and eyes and can also cause hearing loss and gastrointestinal issues. There's no cure, but your doctor can help you manage any symptoms that you have or your child has. In some cases, you might not need treatment at all.
What Is Waardenburg Syndrome?
Waardenburg syndrome happens when there is a mutation (a change) to your genes so they don't "follow instructions" like they're supposed to.
"It's estimated to be in 1 in 40,000 births," says Paul A. Levy, MD, attending geneticist at the Children's Hospital at Montefiore Einstein in Bronx, NY. "It's not super common, but it occurs."
Waardenburg syndrome is named after Petrus Johannes Waardenburg, the Dutch geneticist and eye doctor who first described it in 1951.
Key characteristics of Waardenburg syndrome
"The main characteristic is what's described as a white forelock, a tuft of hair without pigment, in the front of the head," Levy says.
About 45% of babies born with Waardenburg syndrome have a forelock. Hair that turns gray at a young age is another common sign.
Other characteristics include:
Unique eye color. That often means pale blue eyes or eyes that are two different colors, like one brown and one blue. You might hear these referred to as "Waardenburg syndrome eyes."
Hearing loss in one or both ears. About 2% to 5% of babies born with hearing loss have Waardenburg syndrome.
What Causes Waardenburg Syndrome?
Mutations in six genes lead to Waardenburg syndrome. Doctors have identified them as:
- EDN3
- EDNRB
- MITF
- PAX3
- SNA12
- SOX10
These specific genes help produce different cells in your body. Among them are melanocytes, which are cells that add pigment to your skin, hair, and eyes. Melanocytes also help your ears function properly so you can hear.
Most of the time, Waardenburg syndrome is passed down as anautosomal dominant trait. That means only one of your parents needs to have a mutated gene to pass it down to you at the time that you're conceived. Usually, they have Waardenburg syndrome, too.
You can also inherit it in an autosomal recessive(hidden) pattern. That's when both your parents carry the mutated gene but neither one has symptoms.
“Parents of a child with Waardenburg syndrome often say, ‘It can’t be genetic because nobody in my family has this.’ I explain that one parent contributes one mutation and the other parent contributes another. When their child inherits both non-working copies of the gene, the disease appears,” Levy says.
Types of Waardenburg Syndrome
Waardenburg syndrome has four types. The type you have depends on which of the six genes has a mutation.
Each type has its own traits.
Common types of Waardenburg syndrome
The kinds that doctors see the most are:
WS1 (Type I): You probably have wide-spaced eyes and a broad nose.
WS2 (Type II): You likely don't have wide-spaced eyes, but you're more likely to have some hearing loss. It may be severe.
Rare types of Waardenburg syndrome
The less common types are:
WS3 (Type III): Besides hearing loss, your skin may be missing pigment. You could also have bone and joint differences in your arms and hands. This type is sometimes also called Klein-Waardenburg syndrome. It's the rarest type of Waardenburg.
WS4 (Type IV): Aside from other symptoms, type IV causes problems with your digestive tract, like severe constipation or a blocked intestine. You might also hear this kind called Waardenburg-Shah syndrome or Waardenburg-Hirschsprung disease. Hirschsprung disease can cause similar digestive symptoms.
What Are the Signs and Symptoms of Waardenburg Syndrome?
The symptoms of Waardenburg usually show up in babies younger than 23 months old. They can affect different parts of your body.
Pigment changes
For instance, you may have:
- White forelock
- White eyelashes
- Patchy skin color
- Blue eyes or eyes of two different colors
Facial features
You could have:
- A wide nose
- Unusual face shape
- Eyebrows that meet in the middle
- Wide-spaced eyes
- Drooping eyelids (ptosis)
- Orofacial cleft, an opening inside your mouth or lip
Digestive issues
Waardenburg syndrome can make it uncomfortable, and even painful, to move your bowels. The reasons include:
- Aganglionic megacolon, a condition in which your colon is larger than usual but lacks special nerve cells
- Aplasia/hyperplasia of the colon, in which your colon is smaller than usual or didn't develop properly
Hearing loss
Most people with Waardenburg syndrome can hear normally, but you could be born with medium to severe hearing loss in one or both ears.
Other signs of Waardenburg syndrome
Some other symptoms you can have include:
- Peripheral neuropathy, numbness and tingling
- Camptodactyly, a bent finger that won't straighten all the way
- Elbow issues, like a lack of range of motion
- Spina bifida, a condition that affects your spine and spinal cord
How Is Waardenburg Syndrome Diagnosed?
Waardenburg syndrome is often found at birth or very early on in life. To diagnose it, your child's doctor can do:
Clinical exams
The first step is looking for physical symptoms, like eye color and a white forelock. You'll be asked about your family history. Your doctor will also do a hearing test and eye exam.
Imaging tests
In some cases, your doctor may order imaging tests, like CT scans or X-rays, to get details about your intestines, bones, or ears.
Genetic testing
Genetic testing can be done to help your doctor rule out other conditions. You may also want to talk to a geneticist and have genetic testing done if you're thinking of starting a family. "That's true of almost anything, If you think it runs in your family," Levy says.
A sample of your or your child's blood, skin, or other fluid or tissue is sent to a lab. Then, it's analyzed to look for DNA changes that show you have Waardenburg syndrome.
Waardenburg Syndrome Management and Treatment
Your care will depend on the type of Waardenburg syndrome and the symptoms that you have.
Help for hearing loss
Early treatment is key to avoid speech and developmental delays.
Your doctor could suggest:
- A cochlear implant, a device inside the ear that can't restore hearing but can improve how well you hear sounds
- Hearing aids
- Learning different ways to communicate, like sign language, lip reading, and using special devices
Dealing with digestive issues
Chronic constipation is common with some types of Waardenburg syndrome. Following a high-fiber diet and taking daily medications can help manage it. In severe cases, part of your bowel may need to be removed through surgery.
Special care for skin
A lack of pigment can make your skin very sensitive. Your doctor may suggest special creams and other products to take care of it. Wearing sunscreen or covering up in the sun will also be important.
General support for Waardenburg syndrome
You or your child could also benefit from:
- Physical therapy
- Occupational therapy
- Speech therapy
- Mental health counseling
Living With Waardenburg Syndrome
Waardenburg usually doesn't shorten your lifespan. You can live a happy, healthy life with this condition, but you may need some extra support.
Where to get support for Waardenburg syndrome
Joining a rare disease support group lets you meet others who also live with an uncommon condition like Waardenburg. You can share advice and experience, and it may help you feel less alone. Ask your doctor if they can suggest a group.
You can also look for support through a nonprofit that focuses on certain symptoms that you or your child have, like:
Hearing First, which helps children who are deaf or hearing-impaired
The National Organization for Albinism and Hypopigmentation, a group that helps people who live with albinism (lack of melanin, or pigment)
Caring for a child with Waardenburg Syndrome
Parenting a child with a rare disease comes with unique challenges. It can help to:
Seek help early. Being proactive can make a huge difference in your child's life. For instance, when congenital hearing loss isn't caught at birth, your child is more likely to have emotional and behavioral issues and struggle later in school.
Speak up for your child. Trust your instincts. You know your child better than anyone. If you have concerns about their treatment, ask questions or get a second opinion.
Be honest with your child. Talk to them about their condition in a way that's right for their age. If you're not sure how, a mental health professional can help.
Help others understand your child's condition. This can help classmates, neighbors, teachers, and others move past their curiosity and get to know your child for who they are. Think about having a script ready for new people you meet -- for instance, "Annie was born with those very blue eyes, but her favorite color is red. She loves playing with red Legos."
Take care of yourself. Eating well, getting enough sleep, and finding small pockets of time to recharge can help you care for your child.
Takeaways
Waardenburg syndrome is a rare genetic condition that some babies are born with. Symptoms can vary, from a lack of pigment in your eyes, skin, and hair to hearing loss and severe digestive issues. Although treatment isn't always needed, early diagnosis is key to give your child the support they need. If Waardenburg syndrome runs in your family, genetic testing can help you know if you'll pass it on to your child.
Waardenburg Syndrome FAQs
Is Waardenburg syndrome always inherited from a parent?
Not all people who have Waardenburg syndrome inherit it from one parent. Rarely, it's caused by a mutated gene that doesn't run in your family at all.
Does Waardenburg Syndrome affect cognitive ability?
Waardenburg syndrome can cause hearing loss, which may affect your mental function if left untreated. When you can't hear well, it's harder to learn important skills and reach developmental milestones in things like speaking, learning, and moving.
What kind of medical specialists would someone with Waardenburg syndrome see?
Based on the type of Waardenburg syndrome you have, your care team could include:
- Primary care provider
- Audiologist (hearing specialist)
- Dermatologist (skin doctor)
- Ophthalmologist (eye doctor)
- Surgeon
- Gastroenterologist
- Mental health specialist
- Neurologist (brain and nerves specialist)
- Rheumatologist (doctor who takes care of your joints)
- Rare disease expert
- Speech therapist
- Orthopedist (bone and muscle doctor)
- Physical therapist