Waardenburg syndrome is a genetic disorder which causes white forelock (a frontal white blaze of hair), deafness, wide-set inner corners of the eyes, and a difference of color between the iris of one eye and the other, white eyelashes.
Additional physical traits, like – low frontal hairline, a wide space between the eyes (called a broad nasal root), and eyebrows which connect, may also occur in some individuals with the syndrome.
This disorder is named after a Dutch ophthalmologist called Petrus Johannes Waardenburg, who noticed that heterochromia iridis frequently accompanied deafness.
According to statistics, WS affects 1 out of 42,000 births, with 2-62 percent of them presenting deafness.
There are at least 4 different types of WS, including:
- WS type 1 is distinguished by the presence of dystopia canthorum;
- WS type 2 is distinguished from type 1 by the absence of dystopia canthorum;
- WS type 3 has dystopia canthorum and upper limb abnormalities;
- WS type 4 has the additional feature of Hirschsprung disease.
Mutation in the PAX gene is the main cause of this syndrome. This mutation causes impaired activity of the neural crest, that is supposedly responsible for the craniofacial bone and cartilage, melanocytes, and smooth muscles.
Some cases of WS type II and type IV appear to have an autosomal recessive pattern of inheritance, that means both copies of the gene in each cell have mutations.
The syndrome is hereditary. It can be passed to you from one or both of your parents. Individuals with WS have a 50% chance of passing the gene to their children.
Moreover, occasionally, the mutation causing WS occurs spontaneously.
Individuals with WS often have the following characteristics:
- eyebrows which touch in the middle;
- wide-set eyes due to a prominent, broad nasal root;
- a low hairline;
- distinctive hair coloring, like – a patch of white hair or hair which prematurely turns gray;
- one eye has sections of two different colors;
- two different colored eyes (complete heterochromia);
- very pale blue eyes.
People with WS have a higher than average association with:
- patches of white pigmentation on the skin similar to vitiligo;
- cleft lip and palate, scapular elevation;
- spinal and intestinal defects.
Usually, individuals affected with WS tend to have a normal hearing, however, some may experience hearing loss, either bilaterally or unilaterally.
In order to diagnose WS, the treating doctor may order the following tests:
- genetic testing;
- colon biopsy;
- bowel transit time;
- audiometry testing to look for hearing loss.
There is no direct treatment for WS itself, but genetic counseling may be beneficial for affected parents who want to start a family. Also, hearing aids or cochlear implants may be needed for people with this syndrome who start to experience hearing loss.
Here are 3 famous people with Waardenburg syndrome:
Stef was a student at Complections College of Makeup Art and Design. Stef started uploading content to YouTube in January 2015. Currently, her YouTube channel has more than half a million subscribers.
As a child, she was diagnosed with this syndrome that has caused her to be deaf in her left ear. Also, due to this genetic condition, Stef has very blue eyes that appear further apart than on an average person, bone mutations on her face, and pigmentation of skin and hair.
Interestingly, on Friday, December 16, 2016, Stef underwent Facial Feminisation Surgery (a cosmetic surgical procedure which alters male facial features to bring them closer to female facial features) in Boston, Massachusetts with Dr. Jeffrey Spiegel.
#2 Paris Jackson
She is an American actress and model that was born on April 3, 1998, in Beverly Hills, California. She is the second child and only daughter of the pop legend Michael Jackson.
According to some sources, her cold, almost transparent blue eyes are caused by the Waardenburg syndrome. However, the syndrome does not affect her vision and hearing.
#3 Ketlen Silva de Jesus
Even if she is not currently famous, Ketlen Silva de Jesus is a little girl that was scouted by João Pedro Sampaio, a Brazilian photographer, who believes that she will make her mark as a fashion model. Her blue eyes are also caused by the WS.Do you know any other celebrities with Waardenburg syndrome? Please let us know in the comments below.
There are some rumors that Mila Kunis has Waardenburg syndrome, however, she had suffered from a different condition, called chronic inflammation of the iris.
In an interview, she said – ”I was blind in one eye for many years, and nobody knew.” However, surgery has corrected the problem.