What is Waardenburg Syndrome?

Waardenburg syndrome is a group of genetic conditions that cause hearing loss and pigmentation changes to eyes, hair, and skin. The pattern and degree to which individuals are affected varies greatly. In recent years, researchers identified several genetic types of this syndrome. Each type has a different pattern of symptoms.

Genetics

Waardenburg syndrome is a genetic condition inherited from one parent. The parent may be affected by the mutated gene, or just a carrier. The pattern of inheritance differs based on the type of gene mutation. It is common for several siblings to have the syndrome, but the signs may present in different ways.

Cause

Mutations in several genes cause Waardenburg syndrome. These genes are involved in the development of pigment-producing cells called melanocytes. Not only do these cells influence the pigment in skin, hair, and eyes; they are also involved in the functions of the inner ear.

Types

In Waardenburg syndrome type 1, hearing loss is less common, but wide-spaced eyes are more common. Type 2 is the most common type, characterized by different colored irises and permanent hearing loss. In type 3, hearing loss is progressive, and there may be changes in skin pigmentation and abnormalities in the upper limbs. Type 4 has all the above characteristics but also may include intestinal conditions such as Hirschsprung disease.

Signs and Symptoms

Signs and symptoms of Waardenburg syndrome vary according to type. They include changes in eye color such as strikingly blue eyes or two different color irises. Also common to many types are premature greying of the hair or a lock of grey hair — poliosis. Hearing loss in differing patterns is also common. Type 1 can cause a cleft lip and type 3 may include abnormalities of the arms. Many people with Waardenburg syndrome have wide-spaced eyes, a low hairline, and eyebrows that meet in the middle. Type 4 is associated with intestinal problems.

Frequency

The frequency of Waardenburg syndrome differs according to type. Type 1 and 2 are most frequent, whereas type 3 and 4 are rare. The overall incidence is about 1 in 50,000 people. In 2002, there were only 48 cases of type 4. In schools for the deaf, about 1 out of 30 students will have Waardenburg syndrome.

Diagnosis

Diagnosing Waardenburg syndrome usually starts with examining the symptoms of hearing loss and pigment changes. Since these are the most visible signs, parents often seek diagnosis based on these physical manifestations. A doctor will then refer the child for genetic and other testing to rule out related conditions.

Treatment

There is no treatment for Waardenburg syndrome. Managing the condition focuses mostly on treating the symptoms. Hearing loss is usually the symptom of most practical importance, and the management depends on the specific way in which it affects each individual. Specialists may come on board to treat other physical, intestinal, or neurological symptoms. Some physical signs can be treated cosmetically, if required.

Long-Term Support

Focusing on long-term support is the best way to manage Waardenburg syndrome. There are many ways to live well with hearing loss, and it depends on whether it’s a hearing deficit versus complete hearing loss. Children with total hearing loss are often taught sign language. In the case of type 4, a gastroenterologist can help patients manage intestinal issues.

Relation to Other Mammals

There are cases of ferrets that have Waardenburg syndrome. Ferrets with a white stripe down the back or white panda-like pattern stretching from the nose downward often have the syndrome. The majority are deaf with wide spaced eyes and flattened skulls. Also, some cats that are all white and have blue eyes are also deaf, but research has yet to reveal whether they have Waardenburg syndrome.

History and Pop Culture

Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg. He found and described the syndrome in 1951, though he mostly described type 1. Swiss ophthalmologist David Klien also made contributions to the knowledge and descriptions of Waardenburg syndrome types. An episode of the TV show Bones featured a character with Waardenburg syndrome. Several novels have major characters with this syndrome including Reconstructing Amelia, Closer Than You Think, and Shock. Also, popular vlogger Stef Sanjati has Waardenburg syndrome.