What is Waardenburg syndrome type 2?
Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin.
What type of disorder is Waardenburg syndrome?
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears.
What causes Waardenburg syndrome type 1?
Waardenburg syndrome type 1 is caused by mutations in the PAX3 gene . Researchers believe that mutations in the PAX3 gene destroy the ability of the PAX3 protein to bind to DNA and regulate the activity of other genes.
What does Waardenburg syndrome look like?
The most common symptoms of Waardenburg syndrome are pale skin and pale eyes. Another common symptom is a streak of white hair near the forehead. In many cases, someone with this condition might have two different-colored eyes.
What genetic defect causes blue eyes?
Scientists studying the genetics of eye color have identified that a mutation to a separate, nearby gene called HERC2 is the cause of blue eyes. This alteration switches off OCA2, the gene that determines the amount of the brown pigment melanin that we make. Today, around 20-40% of European people have blue eyes.
Does Waardenburg syndrome affect vision?
The symptoms of Waardenburg syndrome vary depending on the type. Across types, most people have: changes in vision. changes in color of the irises, each one often being different or having spots.
Why are Paris Jackson’s eyes so blue?
According to Teen Vogue, the enamoring effect of Jackson’s eyes isn’t just the flattering eye shadow. In fact, the 19-year-old’s makeup artist, Jo Baker, told the publication that Jackson was born with a “rare eye condition” that leaves her irises a striking blue pigment.
Waardenburg syndrome type 2 is defined as having all the features of type 1 except dystopia canthorum. 77% of individuals with type 2 have hearing loss. Waardenburg syndrome type 3, or Klein-Waardenburg syndrome, is similar to type 1 but includes muscle contractures.
How common is hearing loss in Waardenburg syndrome?
Additionally, hearing loss is not as common as in type 2. Rarely, cleft lip has been reported in this form of Waardenburg syndrome. Type 4 can also be caused by a mutation in SOX10 (the same gene as in type 2E), in which it is known as type 4C; hearing loss is very common and severe in this type.
Can Waardenburg syndrome cause cleft lip?
Rarely, cleft lip has been reported in this form of Waardenburg syndrome. Type 4 can also be caused by a mutation in SOX10 (the same gene as in type 2E), in which it is known as type 4C; hearing loss is very common and severe in this type.
What are the chances of having a baby with Waardenburg syndrome?
Genetic Counseling. Because of the way Waardenburg syndrome is inherited (autosomal dominant) in types 1 and 2, an affected individual has a 50% chance in each pregnancy of having an affected child.