WS2 was identified in 1971, to describe cases where "dystopia canthorum" did not
present.[4] WS2 is now split into subtypes, based upon the gene responsible.
Other types have been identified, but they are less common.
There are five major and five minor diagnostic criteria for Waardenburg syndrome.
Major:
Minor:
Epidemiology
The overall incidence is ~1/42,000 to 1/50,000 people. Types I and II are the most
common types of the syndrome, whereas types III and IV are rare. Type 4 is also
known as WaardenburgShah syndrome (association of Waardenburg syndrome
with Hirschsprung disease).
About 1 in 30 students in schools for the deaf have Waardenburg syndrome. All
races and both sexes are affected equally. The highly variable presentation of the
syndrome makes it difficult to arrive at precise figures for its prevalence
Classification
Symptoms
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 colours (sectoral
heterochromia);
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.
Inheritance
Types II and IV Waardenburg syndrome may sometimes have an autosomal
recessive pattern of inheritance.
Treatment
There is currently no treatment or cure for Waardenburg syndrome. The symptom
most likely to be of practical importance is deafness, and this is treated as any
other irreversible deafness would be. In marked cases there may be cosmetic
issues. Other abnormalities (neurological, structural, Hirschsprung disease)
associated with the syndrome are treated symptomatically.
In animals
Waardenburg syndrome is known to occur in ferrets. The affected animal will
usually have a small white stripe along the top or back of its head, sometimes
down the back of the neck (known as a blaze) or a solid white head (from nose to
shoulders; ferrets with this are known as a panda marked ferret) and a somewhat,
although barely noticeably, flatter skull than normal ferrets. As a ferret's sense of
hearing is poor to begin with it is not easily noticeable except for when the affected
animal does not react to loud noises that non-affected ones will respond to. As the
disorder is easily spread to offspring, the affected animal will not be used for
breeding by private, reputable breeders, although it may still be neutered and sold
as a pet. However, largely as a result of mass-breeding due to the "exotic"
markings it gives (when compared to a standard sable/pole cat marked or albino
ferret), 75% of US ferrets with a blaze or white head sold from pet stores are deaf
In Popular Culture
In the season 6 episode of Bones (TV Series), 'The Signs in the Silence', the team
must solve a case in which the suspected killer has Waardenburg syndrome.
Enzo Macleod, protagonist of Peter May's series The Enzo Files, has Waardenburg
syndrome. His eyes are different colors and he has a white streak in his hair. See
pp. 17-18 of "Extraordinary People" (2006) by Peter Mays.
Other Contributors
See also
ChediakHigashi syndrome
References
External links