People with Waardenburg syndrome (WS) typically have pale white skin. Some people may have patches of white hair, while others may experience premature graying of the hair when they are as young as 12 years old. The eyes may be a very pale blue, or they may each be a different color (usually brown and blue). Sometimes, one eye may be two different colors.
Additional physical traits, such as a wide space between the eyes (called a broad nasal root), low frontal hairline, and eyebrows that connect, may also occur in some people with WS.
People with WS may have all or some of the characteristics associated with the disorder. Based on the combination of a person's symptoms, the condition is classified as one of four types of WS. Type 1 and type 2 are the most common types of WS, and they appear to affect an equal number of people. Types 3 and 4 are rare and have been associated with other medical problems that are present at birth, including intestinal disorders, spinal disorders, elevation of the shoulder blade, and a cleft lip and/or palate. These symptoms may help confirm a diagnosis.
Many symptoms of WS are present at birth, while some may not be apparent until early childhood. Therefore, most cases are diagnosed during infancy.
It is estimated that WS affects one out of 42,000 people. Researchers believe that WS is responsible for two to three percent of congenital deafness (deafness at birth) cases. The disorder appears to affect males and females equally.
Although there is currently no cure for the disorder, treatments are available to reduce some of the symptoms. Most patients are able to live long, healthy lives.
General: Waardenburg syndrome (WS) is an inherited disorder, which means it is passed down from parents to their children. There are four different types of abnormal, or mutated, genes that can cause WS. Since each mutated gene affects the body slightly differently, there are four different variations of WS. Even though WS is passed down among families, the symptoms of the disorder may vary among family members.
Types 1-3: Type 1, type 3, and some cases of type 2 WS are passed down as autosomal dominant traits. This means a child only has to inherit one copy of the mutated gene in order to develop WS. Each parent provides one copy, or variation of a single gene, (called an allele) to each child. Therefore, if one parent has WS, there is a 50% chance that each of his/her children will have the disorder.
Type 4 and some cases of type 2: Type 4 WS and some cases of type 2 WS are passed down as autosomal recessive traits. In order to inherit an autosomal recessive disorder, two copies of a single gene (one mutated copy from each parent) must be inherited.
Individuals who only have one mutated allele and do not experience symptoms are called carriers. If one parent is a carrier, there is a 50% chance with each birth that a child will also be a carrier and a 0% chance that the child will inherit the disease. If both parents are carriers, there is a 50% chance that the child will be a carrier and a 25% chance that each child will inherit the disease.
Other: A minority of cases may not be inherited. Instead, they originate when a mutation randomly occurs during the development of an egg, sperm, or embryo.
SIGNS AND SYMPTOMS
General: All types of Waardenburg syndrome cause hearing loss and color changes in the skin, hair, and eyes. Hearing loss varies from mild to profound. Some people may have patches of white hair, while others may experience premature graying of the hair when they are as young as 12 years old. The eyes may be a very pale blue, or they may each be a different color (usually brown and blue). Sometimes, one eye may be two different colors.
Additional symptoms may also be present, depending on the specific type of WS.
Type 1: In addition to the symptoms listed above, people with type 1 WS typically have an increased space between their eyes. Hearing loss occurs in about 20% of people with type 1 WS.
Type 2: People who have the characteristic symptoms of WS, but do not have an increased space between the eyes, have type 2 WS. About half of all people with type 2 WS suffer from hearing loss or deafness.
Type 3: Type 3, also known as Klein-Waardenburg, is a rare form of WS. People with type 3 WS experience the same symptoms as people with type 1 WS. The main difference, however, is that people with type 3 also experience skeletal developmental problems, especially of the arms. For instance, patients are typically born with rigid joints (a condition called amyoplasia) and the skin (not the bones) of the fingers may be fused together (called cutaneous syndactyly). People may also be born with a small head and intellectual disabilities.
Type 4: Type IV, also known as Shah-Waardenburg, is another uncommon form of WS. This type causes the same symptoms as type 2 WS. However, type 4 is also associated with Hirschsprung's disease, an intestinal disorder that makes it difficult to pass stools.
General: Signs and symptoms of Waardenburg syndrome (WS) are first evaluated during a physical examination. A doctor will ask the patient about his/her medical and family history. If WS is suspected, medical tests may be necessary to confirm a diagnosis.
DNA test: A DNA test may be performed to confirm a diagnosis. A sample of blood is taken from the patient and analyzed in a laboratory for the presence of genetic mutations associated with WS. If a genetic mutation is detected, a positive diagnosis is made.
Audiogram: If hearing loss is suspected, a doctor may recommend an audiologist, which is a doctor that specializes in hearing. During an examination, the audiologist will ask questions about the patient's medical history and perform a hearing test, called an audiogram, to determine the severity of hearing loss. During an audiogram, the patient wears headphones and is exposed to various sounds that have different pitches and frequencies. The patient is asked to identify each time a sound is heard. The audiologist may also say various words to evaluate the patient's hearing ability.
People with type 4 WS who have Hirschsprung's disease may experience constipation or have difficulty absorbing nutrients from food. This is because the nerves in the colon have not formed properly in these patients. In severe cases, a newborn child may experience an obstructed colon.
General: Although there is currently no cure for the disorder, treatments are available to reduce some of the symptoms.
Hair dye and styling: People can choose to dye their hair if it is gray or has white patches. People may also style their hair in a way that covers or hides white patches of hair.
Hearing aids: Individuals who experience hearing loss may benefit from hearing aids. These battery-operated devices are available in three basic styles: behind-the-ear aids, in-the-ear aids, and canal hearing aids. Patients should talk to their doctors to determine the type of hearing aid that is best for them. A behind-the-ear device is used for mild to profound hearing loss. The device has a hard plastic case that is worn behind the ear and connected to a plastic ear mold that fits inside the outer ear. In-the-ear hearing aids fit completely inside the outer ear, and they are used for mild to severe hearing loss. Canal hearing aids are smaller hearing aids that fit inside the patient's hearing canal. They are used for mild to moderately severe hearing loss.
Cochlear implants: If hearing loss is severe, patients may benefit from cochlear implants. These electronic devices are surgically implanted inside of the ears. Unlike a hearing aid, which amplifies sound, a cochlear implant makes up for poorly developed parts of the inner ear. Research has shown that these devices are effective in people with WS.
Sign language: Individuals who are deaf are often able to communicate with others with sign language. It is best to begin teaching sign language at a young age. A child's pediatrician can recommend programs that teach sign language.
Laxatives: People with type 4 WS may take laxatives, such as Correctol© and Dulcolax©, to improve symptoms of constipation associated with Hirschsprung's disease. However, these medications should not be taken for long periods of time. Patients who overuse laxatives may develop colon damage. Long-term use of laxatives may cause the muscles in the colon to become weak from lack of use. The nerves in the lining of the colon may also become damaged. As a result, this may slow intestinal mobility and cause constipation.
Dietary supplements: Dietary fiber supplements, such as oat bran, Metamucil©, Konsyl©, or Citrucel©, may help relieve symptoms of constipation. These supplements help make stools softer and are safe to use daily. However, individuals should drink plenty of fluids, especially water, when they take fiber supplements. If a person is not well-hydrated, fiber supplements may actually make constipation worse. Many doctors recommend adding fiber to the diet slowly in order to prevent gas and bloating.
Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Waardenburg syndrome (WS).
There is currently no known method of prevention of Waardenburg syndrome (WS). However, individuals who have WS may meet with a genetic counselor to learn more about the risks of having a child with the disorder.
Individuals who have a family history of WS may undergo genetic testing to determine if they are carriers of the mutated gene associated with type 4 or type 2 WS. Although carriers do not have the syndrome, they may pass a copy of their mutated gene to each of their children.
Prenatal screening and diagnostic tests may also be performed to determine if a fetus has WS. However, there are serious risks associated with prenatal testing, including miscarriage. Therefore, patients considering prenatal testing should discuss the potential health risks and benefits with their healthcare provider before making any health-related decisions. Also, if a fetus tests positive for WS, a doctor cannot predict the type or severity of symptoms the baby will have because symptoms often vary among family members.
This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).
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