What are the four types of Waardenburg syndrome?
Waardenburg syndrome (WS) is an auditory-pigmentary syndrome caused by a deficiency of melanocytes and other neural crest-derived cells. Depending on a variety of symptoms associated with the auditory-pigmentary symptoms, WS is classified into four types: WS type 1 (WS1), WS2, WS3, and WS4.
What does Waardenburg syndrome look like?
Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye.
What is Type 3 Waardenburg?
Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of ‘dystopia canthorum,’ the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton.
Is Waardenburg syndrome progressive?
Although some studies reporting progressive hearing loss in people with Waardenburg syndrome did not clearly describe the subtype of Waardenburg syndrome present, it is believed that progressive hearing loss is limited to those with type 2.
Does Waardenburg syndrome cause intellectual disability?
The characteristic feature of type 3 that distinguishes it from types 1 and 2 is issues with the upper limbs. People with type 3 may have weak arms or shoulders or malformations in their joints. Some also have intellectual disabilities or a cleft palate. Type 3 is sometimes called Klein-Waardenburg syndrome.
What causes someone’s eyes to be far apart?
Type 1. Type 1 Waardenburg syndrome causes someone to have a wide space between their eyes. About 20 percent of people with type I experience hearing loss. They also have patches of color or lost color on the hair, skin, and eyes.
How is Waardenburg syndrome inherited?
Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent has to pass on the faulty gene for a child to be affected.
Can you get Waardenburg syndrome later in life?
As it is a rare condition and clinical signs can be subtle, diagnosis may not be made until later in life. In addition to the characteristic pigment changes and deafness, Waardenburg syndrome can be associated with musculoskeletal defects and Hirschsprung syndrome.
What is Blue eye syndrome?
Blue eye disease is a viral disease that is commonly identified by encephalitis, pneumonia, and respiratory diseases in piglets. It also causes reproductive failure in adult pigs, and rarely identifies with corneal opacity, an eye disorder characterized by scarring of the cornea.
