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Waardenburg Syndrome Details

Expanded Description

There are 4 types of Waardenburg Syndrome:

Type I is characterized by pigmentary disturbances, eye anomilies (abnormal lid folds, distance between inner eye corners), and a broad nasal root. About 25% of people with this type of WS will have some form of hearing impairment.

Type II has the same pigment disturbances as Type I, but does not have the eye anomilies nor the broad nasal root. Approximately 50% of those with this type will have a hearing impairment. Type II is further seperated into two subgroups. Type IIa are reserved for those who have inherited the condition, and Type IIb are for those who have it as a result of spontaneous mutation.

Those with Type III have characteristic variations of Types I & II, but also have gastro-intestional issues.

Those with Type IV have the same characteristics as types I & II, but also have varying degrees of muscle-skeletal anomilies.

Types I and II are the most common types of this disorder

Prevalence

2.4 ( Per 100,000 Population ) [Source]

Causes

WS is an autosomal dominant trait, meaning it can be directly inherited from parent to child. There is a 50% chance of inheriting the disorder from an afflicted parent.

Otherwise, this condition can be caused from spontaneous genetic mutation.

The genes involved with this condition are MILF, SNA12, and TYR.

Disorder Symptoms

Pigmentation symptoms:
- A tuft of white hair amid a person’s normal hair color – white forelock.
- White eyebrows, eyelashes, or body hair; or just parts of those areas will have some white hairs.
- Hypo-pigmented spots or splotches on the skin, known as Vitiligo or Lekoderma.
- Two different-colored irides, or irises with two colors in each. Or exceedingly bright blue eyes.

*Note: not all people with this condition will have all pigmentation symptoms. Some hypopigmented hairs and skin will spontaneously repigment, but most are permanent. You do not need poliosis or Vitiligo to qualify for the condition, however you need to have some form of Heterochromia, or the blue eyes classic to this condition, for to meet criteria for the syndrome.

Eye anomilies
- reversed or large lid folds
- dystopia of the inner canthi (inner corners of the eyes)
- in some cases myopia
- in some cases hyperteloism

Facial anomilies
- broad nasal root
- in some, lightly bossed forehead
- in some, receding lower jaw

Anomilies of the bowel for Type IV

Anomilies of the musculo-skeletal system for Type III

We don't have any symptoms yet.

Diagnosis

You must have two major characteristics, or one major and two minor characteristics, to meet criteria for the syndrome.

The syndrome can be confirmed through genetic screening, with results showing mutation of the MILF, SNA12, and/or TYR genes.

Diagnostic Tests

Genetic screening

Pigment anomilies present at birth or shortly thereafter. A Wood’s Lamp can be used to discover hypomelanic macules on fair-skinned people.

Deafness is sensorineural and congenital. Audiological tests to confirm and rate the severity of deafness.

We don't have any tests yet.

Disorder Treatments

No treatment information has been added yet

We don't have any treatments yet.

Prognosis

For those who are deaf, early identification and the use of cochlear implants or hearing aids will reduce speech and language delays.

Hearing loss is said to be progressive for Type II. New studies show it is possible for type IV to be dominant and progressive.

Lifespan is normal, unless affected by other traits

Tips for Living with the Disorder

We don't have any tips yet.