A genetic disorder that negatively affects the coloring (pigmentation) of the skin, hair, and eyes is called Waardenburg syndrome. People with this condition may experience hearing loss and rarely constipation or intestinal blockages. Unfortunately, this condition cannot be cured, and treatment focuses on relieving the symptoms. However, not all types of this disorder need treatment.
Generally, there are 6 mutations that cause 4 types of Waardenburg syndrome. Moreover, each type has its own symptoms.
Anyone may develop this condition since it is a genetic disorder. Mostly, it is diagnosed in people who inherit one copy of the abnormal gene from their biological parents during pregnancy (autosomal dominant). In normal circumstances, when abnormal genes are passed to the biological children, parents also have this condition.
In some cases, the second and fourth types of the condition inherit abnormal genes in an autosomal recessive pattern. It means the baby receives abnormal genes from both biological parents during conception. In such cases, parents may not have symptoms or the condition itself, but carry the mutated genes.
Rarely, a new genetic change (mutation) runs in families that do not have a family history of Waardenburg syndrome.
This is a rare disorder because it happens in one out of 40,000 people (including 2% to 5% of all congenital hearing loss diagnoses).
How Does Waardenburg Syndrome Affect My Body?
Usually, mutated genes affect hearing. However, while some people have severe hearing loss present at birth (congenital), others do not have hearing problems at all. The genes that cause this syndrome may also affect the eyes, skin, and hair, which may lead to different colors of the eyes. Other common symptoms of Waardenburg syndrome include light patches on the skin and hair color changes.
Symptoms
In general, the symptoms of Waardenburg syndrome are different among people, even among members of the same family. The most common symptoms of this syndrome include hearing problems and pigmentation of the hair, skin, and eyes. Other specific symptoms include widely spaced eyes in type 1, irregularities of the arms and hands in type 3, and Hirschsprung disease (a gastrointestinal disorder) in type 4.
Deafness
Sometimes, people with this syndrome may have moderate to severe loss of hearing in one or both ears. However, some people with Waardenburg syndrome have normal hearing. In addition, hearing loss is usually present at birth (also called congenital hearing loss).
Pigmentation
Almost everyone with Waardenburg syndrome experiences changes in hair, skin, and eye color. These include:
- Pale or blue eye color
- Different colors of the eyes
- A part of the eyes with color (iris) has a different color (also called heterochromia iridis)
- Gray hair at a young age
- Patch of white hair above the forehead (forelock)
- Light patches on the skin that are a different color from the rest of the body (congenital leukoderma)
Types of Waardenburg Syndrome
Healthcare professionals have divided this syndrome into 4 types. Each one is based on unique symptoms. For example:
- I – Wide-spaced eyes and a broad nasal bridge.
- II – Moderate to severe hearing loss.
- III – Skin pigmentation changes, bone growth abnormalities, and hearing loss.
- IV – This type is also known as Waardenburg-Shah syndrome, and it causes Hirschsprung disease, which includes severe constipation or intestinal blockages.
People usually are diagnosed with type I and II, III and IV happen quite rarely.
Causes
This condition occurs when even one of the following genes develops mutations. For example:
- EDN3, EDNRB, and SOX10 (type IV)
- MITF and SNAI2 (type II)
- PAX3 (type I and III)
Previous genes produce some cells, including melanocytes (specific cells that give your skin, hair, and eyes color). Moreover, these cells are responsible for inner ear functions.
Risk Factors
Healthcare professionals have identified some factors that may increase your risk of developing Waardenburg syndrome. For example:
- Family history – If you have a parent or sibling with this syndrome, the risk of developing it increases significantly.
- Genetic mutations – This condition is caused by mutations in some genes. Therefore, these abnormal genes are received from biological parents during pregnancy.
- Advanced paternal age – Some recent studies suggest that the risk of Waardenburg syndrome significantly increases if you become pregnant at an advanced age.
- Autosomal dominant and recessive inheritance – The only difference between these types of inheritance is that some types of the disease need only one copy of the abnormal gene to occur, while others happen only if the baby receives the mutated gene from both parents. When the baby gets only one abnormal gene and does not develop the condition, it becomes a carrier.
What Are The Possible Complications of Waardenburg Syndrome?
Sometimes, people with this genetic disorder may also experience some complications. Check below some examples:
- Intellectual disability
- Deafness (complete hearing loss)
- Ocular disorders (such as cataracts)
- Skeletal anomalies
- Psychiatric conditions
This article does not have all the possible complications of this syndrome. If you suspect your child has developed a Waardenburg syndrome complication, immediately seek emergency care.
How to Prevent Waardenburg Syndrome?
Unfortunately, there is no sure way to prevent this genetic disorder. However, you can perform some genetic tests before pregnancy to make sure you do not have the abnormal gene that causes Waardenburg syndrome.
Diagnosis
Usually, doctors diagnose this condition at birth or during early childhood. They perform a physical examination to check for abnormalities linked to the disease. Healthcare professionals may ask some questions about the symptoms and family history. When it is unclear whether you have this condition, doctors may perform some tests (such as genetic testing) to confirm the condition and rule out other diseases that cause similar symptoms. Check below some tests used to diagnose Waardenburg syndrome:
- An eye examination
- An auditory (hearing) test
- Imaging tests to check the inner ear, hands, arms, or intestines, depending on the type of condition you develop
Treatment
Some people with this syndrome do not need treatment. However, when it is needed, doctors usually recommend the following ones. Examples include:
- Hearing aids
- Cochlear implant surgery to improve hearing problems
- Wearing sunscreen to protect against UV rays on the affected part of the skin
- Certain medicines that help improve bowel movements
- Dietary changes
- Topical medicines that help the skin recover
- Surgery to remove or repair the damaged part of the intestines
Frequently Asked Questions
What is the life expectancy of Waardenburg syndrome?
Generally, this genetic disorder does not affect life expectancy. However, if you develop complications such as Hirschsprung’s disease and you do not get treatment, it may affect your lifespan. For more details, discuss it with your healthcare professional.
What are the 4 types of Waardenburg syndrome?
Check below the most common types of Waardenburg syndrome:
- Types I and II happen in most cases. People who develop these types usually have hearing problems and changes in the facial structures.
- Type III (also called Klein-Waardenburg syndrome) happens less commonly and may cause skin pigmentation problems as well as deafness.
- Type IV (also known as Waardenburg-Shah syndrome) occurs rarely and may cause severe constipation or intestinal blockages.
What are the complications of Waardenburg syndrome?
People who develop this condition may also experience some complications. These include hearing loss, reduced intellectual functioning, severe constipation, intestinal blockages, self-esteem issues, and others. Ask your healthcare provider if you have additional questions.
