It is a congenital disorder that is present from birth. There is no cure for the condition, but it can be managed.
People with Waardenburg syndrome may have a broad nasal root, causing wide eyes. It is common for people with this disorder to have spotty eyes or different colored eyes.
People with Waardenburg syndrome may also have an unusual facial shape and other changes in their appearance, such as prematurely gray hair.
What are the types of Waardenburg syndrome?
Doctors have identified four types of Waardenburg syndrome. Its symptoms vary, but people with each type tend to have similar symptoms. Types 1 and 2 are the most common.
Waardenburg syndrome type 1 causes someone to have a vast space between the eyes. About 20 percent of people with type I experience hearing loss. They also have patches of color or loss of color on their hair, skin, and eyes.
Hearing loss is more common in type 2 than type 1, with about 50 percent of people losing their hearing.
Symptoms resemble type 1, including hair, skin, and eye pigment changes. This disease version is distinguished from type 1 mainly by the absence of an ample space between the eyes.
Type 3 is similar to types 1 and 2, often causing hearing loss and pigmentation changes. People with this shape usually have a vast space between the eyes and a wide nose. The characteristic of type 3 that distinguishes it from types 1 and 2 is the problem with the upper limbs.
People with type 3 may have weak arms or shoulders or joint malformations. Some also have intellectual disabilities or a cleft palate. Type 3 is sometimes called Klein-Waardenburg syndrome.
Type 4 causes pigmentation changes and can lead to hearing loss. Also, people with this form have a disease called Hirschsprung’s disease. This disorder can block the colon and cause severe constipation.
- Bright blue eyes with different colors.
- People with Waardenburg syndrome may have changes in iris color, fair skin, and premature graying of hair.
The symptoms of Waardenburg syndrome vary depending on the type. In all types, most people have:
- Changes in vision
- Changes in the color of the irises are often different or have spots.
- Early graying of hair before 30 years of age.
- Light skin patches.
Most people with Waardenburg syndrome have normal hearing, but hearing loss can occur in all four types.
Some people with Waardenburg syndrome experience other abnormalities, mainly affecting the shape of various body parts. Some of the most common include:
- Difficulties with the production of tears.
- A small colon.
- An abnormally shaped uterus.
- Cleft palate.
- Partially albino skin.
- Wide nose.
- Single or continuous brow.
Symptoms vary substantially within types, but type 3 tends to be the most debilitating. In addition to the typical symptoms of Waardenburg syndrome, people with type 3 may experience:
- Finger bones that are fused.
- Abnormalities in the arms, hands, or shoulders.
- Microcephaly or a tiny head.
- Developmental delays or intellectual disability.
- Changes in the shape of the skull bones.
Causes of Waardenburg syndrome
The disease syndrome is not contagious, cannot be treated with medication, and cannot be caused by lifestyle or developmental factors.
Mutations in at least six genes are related to Waardenburg syndrome. These genes help the body make various cells, especially melanocytes. Melanocytes are the cells that help give skin, hair, and eyes their pigment.
Some genes involved in Waardenburg syndrome, including SOX10, EDN3, and EDNRB, also affect the development of nerves in the colon. The specific mutation a person has will determine the type of Waardenburg syndrome they develop.
Genetic causes of each type
Types 1 and 3 follow an autosomal dominant pattern of inheritance. Autosomes are chromosomes that are not sex chromosomes.
Dominant means that a person only needs to inherit one copy of a genetic mutation to develop the disease. Most people with type 1 or 3 have a parent with the disorder.
Types 2 and 4 also follow a dominant inheritance pattern but can also be inherited according to a recessive genetic pattern. This pattern requires two copies of a genetic mutation, making inheritance less likely.
Both inheritance patterns mean that a person is more likely to have Waardenburg syndrome if a parent or another close relative, such as a grandparent, has the disorder.
However, recessive genes can be hidden for several generations, so not everyone with Waardenburg syndrome has a family member with this disorder.
How rare is Waardenburg syndrome?
Waardenburg syndrome is a rare disease that affects approximately 1 in 40,000 people. About 2 to 5 percent of all cases of deafness caused by genetic abnormalities result from the syndrome. Although rare, Waardenburg syndrome can run in the family because it is genetic.
Doctors may suspect Waardenburg syndrome in a newborn baby based on the child’s appearance.
Doctors can also screen babies for Waardenburg syndrome if they develop hearing loss.
Most cases of Waardenburg syndrome are diagnosed in early infancy or childhood, although some cases may go unrecognized for many years.
Blood sample used for DNA testing
Waardenburg syndrome can be diagnosed by testing a DNA sample.
The tests require a DNA sample drawn from a person’s blood. A laboratory can detect DNA for genetic mutations related to Waardenburg syndrome.
It is also possible to detect genetic mutations associated with Waardenburg when a woman is pregnant.
These screening tests cannot determine the severity of Waardenburg syndrome symptoms.
Treatment and management of Waardenburg syndrome
People with Waardenburg syndrome have a typical life expectancy and can lead everyday lives.
There is no evidence that lifestyle or other environmental changes affect your symptoms. Instead, treatment requires managing symptoms as they appear.
The most common treatments for Waardenburg syndrome include:
- Cochlear implants or a hearing aid to treat hearing loss.
- Developmental support, such as special schools, for children with severe hearing loss.
- Surgery to prevent or remove obstructions in the intestines.
- A colostomy bag or other device to support intestinal health for intestinal blockages.
- Surgery to correct a cleft lip or palate.
- Cosmetic changes include hair dying or using makeup to cover unusual skin pigment.
A person with Waardenburg syndrome may need support to manage their condition, mainly if it affects their appearance in ways that are not easily changed. Support groups, family counseling, and education about the disease can help.
Waardenburg syndrome includes a wide variety of symptoms. Some people experience only minor changes in their appearance. Others face numerous functional challenges. There is no way to predict how Waardenburg syndrome will manifest or change over time in a given person.