Waardenburg syndrome is a set of hereditary conditions which could lead to hearing loss and changes in coloring (pigmentation) of your skin, hair, and eyes. Even though most individuals with Waardenburg syndrome have normal hearing, moderate to severe hearing loss may happen in one or both ears. Individuals with this illness often have quite light blue eyes or various coloured eyes, like a single blue eye and a brown eye. Occasionally 1 eye has sections of two distinct colours. Distinctive hair coloring (for instance, a patch of white hair or hair which prematurely turns grey) is another frequent indication of the status. The characteristics of Waardenburg syndrome differ among affected people, even among men and women in precisely the same family.
There are four known forms of Waardenburg syndrome, which can be distinguished by their physical traits and sometimes by their genetic origin. Types I and II have very similar attributes, although individuals with type I almost constantly have eyes that look widely spaced and individuals who have type II don’t. Additionally, hearing loss happens more frequently in individuals with type II than in people who have type I. Type III (occasionally called Klein-Waardenburg syndrome) contains abnormalities of the arms and palms along with hearing loss and changes in psoriasis. Sort IV (also referred to as Waardenburg-Shah syndrome) has symptoms and signs of both Waardenburg syndrome and Hirschsprung disease, an autoimmune disease that causes severe constipation or blockage of the intestine.
Signs and symptoms of Waardenburg syndrome
Symptoms vary from one type of the syndrome to another and from one patient to another, but they include:
- Very pale or brilliantly blue eyes, eyes of two different colors (complete heterochromia), or eyes with one iris having two different colors (sectoral heterochromia)
- A forelock of white hair (poliosis), or premature graying of the hair
- Appearance of wide-set eyes due to a prominent, broad nasal root (dystopia canthorum)—particularly associated with Type I) also known as telecanthus
- Moderate to profound hearing loss (higher frequency associated with Type II);
- A low hairline and eyebrows that meet in the middle (synophrys)
- Patches of white skin pigmentation, in some cases
- Abnormalities of the arms, associated with Type III
- neurologic manifestations, associated with Type IV
Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula and cleft lip and palate. Sometimes this is concurrent with Hirschsprung disease.
Treatment of Waardenburg syndrome
There’s currently no cure or treatment for Waardenburg syndrome. The symptom most likely to be of practical significance is deafness, and that can be treated as any other irreversible deafness will be. In marked instances, there might be cosmetic problems. Other abnormalities (neurological, structural, Hirschsprung disease) related to the syndrome have been treated symptomatically.
