Major Characteristics of WS

Heterochromia Iridis

Bright blue eyes

Dystopia canthorum

Broad, prominent nasal root

Small mid-face

Prematurely gray hair

Congenital sensorineural hearing loss

WS Type 4 & Hirschsprung's Disease

Heterochromia Iridis

"Heterochromia iridis" means that someone, or some animal, has eyes of two different colors, as does the cat in the photo to the right. It may also mean two colors in the same eye, as in the photo on the left. This person was born with blue eyes, and developed patches of brown during adolescence.

Heterochromia makes eyes look unusual, but does not affect the person’s vision. WS does not usually cause vision problems.

Interestingly, animals, including horses, dogs, mice, and cats may have WS. Deaf animals make good pets, but are often destroyed in the mistaken belief that they cannot be trained. Deaf animals can make good pets if they are kept in a sheltered environment.

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Bright Blue Eyes

People with WS often have beautiful, bright blue eyes in combination with one or more of the other characteristics of WS. Blue eyes and prematurely gray hair often occur in combination, as they do in the photo to the left. Any person with blue eyes may experience photophobia, difficulty seeing in bright daylight, because people with blue eyes do not have the overlying layer of darker pigment that people with brown, hazel, or green eyes do. This additional pigment protects the eyes from strong light. People with blue eyes also often have poor night vision. Blue eyes alone are not diagnostic of WS; however, blue eyes in combination with prematurely gray hair, areas of depigmented skin, or hearing loss are suggestive of WS.

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Dystopia Canthorum

"Dystopia canthorum" describes the appearance of the person’s eyes and nasal bridge. People with dystopia canthorum have broad, flat nasal bridges, with folds of skin covering the inner corners of their eyes. These folds of skin give an Asian appearance to the eyes of people with WS. Asian people, such as the one in the photo to the right, have folds of skincovering the inner corners of their eyes called epicanthal folds. These folds are a normal facial feature caused by the flatter nasal bridges typical of Asian people. Dystopia canthorum, as shown in the photo to the left, is not a normal condition for persons of any race. Physicians use a formula called the "W Index" for calculating distance between eyes to determine if someone has dystopia canthorum.

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Broad Nasal Root

Broad, prominent nasal roots are often found in people with WS. The nasal root is the area between the eyes where the bridge of eyeglasses rests. People with prominent nasal roots appear to have flat, wide faces, and their eyes may appear to be set widely apart. The person in the photo also has the bright blue eyes, flared eyebrows, small nasal alae, and nevi characteristic of WS.

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Small Mid-Face

People with WS may have facial bones that are smaller than normal. These bones include the nasal bones, cheek bones, and some of the bones that form the eye sockets. When mid-face bones are smaller than expected, the person's face may appear flat in profile. Flattened nasal bones can cause the person's eyes to appear widely set and "oriental-looking," even if the person is not Asian.

This man has small mid-face bones, heterochromia iridis, and prematurely gray hair - all characteristics of WS.

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Prematurely Gray Hair

Prematurely gray hair, or patches of gray hair in darker colored hair are also signs of WS. Many people with WS have a white streak of hair in the center of their forehead. Others may have hair that turned entirely gray when they were teenagers. Some people with WS have white eyelashes and eyebrows. Gray hair often occurs in combination with bright blue eyes and hearing loss. People whose hair has turned gray prematurely may choose to dye their hair, so this feature is not always visible in someone with WS. The man in the photograph (above right) has hair that turned gray when he was in his teens.

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Sensorineural Hearing Loss

Sensorineural hearing loss may be present at birth (congenital), or it may appear later in life. In severe cases individuals with WS are born deaf. Some individuals have hearing loss in only one ear, and some individuals have very mild hearing losses that do not interfere with speech or language development. Because hearing loss is not a visible characteristic, people who have some of the other features of WS should always receive a hearing evaluation. A boy with a cochlear implant is pictured below.

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WS Type 4

WS Type 4 is also called Shah-Waardenburg Syndrome. Persons with WS4 may have any or all of the symptoms of WS2.

People with WS4 may also have a condition called Hirschsprung's disease (HD). HD usually is discovered shortly after birth, and may be life threatening. It is a condition that involves colon problems and an inability to expel feces from the intestines. Someone with untreated HD develops an enlarged colon, chronic constipation, and failure to thrive. HD is treated by corrective surgery or diet modification.

For more information on Hirschsprung's disease, see these sites:

          NDDIC - Hirschsprung's Disease

          Genetic and Rare Conditions Site

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