What is Waardenburg syndrome?

Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. Broad nasal bridge, or widening of the base of the nose, is a relative term.

What is the life expectancy of a person with Waardenburg syndrome?

Waardenburg syndrome shouldn't affect your life expectancy. It usually doesn't accompany any other complications, other than inner-ear deafness or Hirschsprung's disease, which affects the colon. The physical features affected by the condition will remain with you for life.

What is the cause of Waardenburg syndrome?

Mutations in the EDN3, EDNRB, MITF, PAX3 and SOX10 genes cause Waardenburg syndrome. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene, potentially resulting in the appearance of the disease.

Does Waardenburg syndrome cause mental retardation?

Prognosis. Children with Waardenburg syndrome have a normal life expectancy. Morbidity is related to deafness and to defects of neural crest-derived tissues, including mental retardation, seizures, psychiatric disorders, skeletal anomalies, and eye disorders (including cataracts).

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.

Waardenburg's Syndrome - CRASH! Medical Review Series

What are the 4 types of Waardenburg syndrome?

There are four main types of Waardenburg syndrome. The most common are type I and type II. Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are rarer. The multiple types of this syndrome result from defects in different genes.

Does Paris Jackson have Waardenburg syndrome?

Although Baker doesn't name the condition in the interview, she said it wasn't impacting Jackson's eyesight, fuelling media speculation that Paris has Waardenburg syndrome (WS), a rare genetic condition affecting one in 40,000 people. WS can cause hearing loss and changes in pigmentation of the hair, skin and eyes.

Does Waardenburg syndrome cause intellectual disability?

Waardenburg's Syndrome (WS), a rare disorder inherited as an autosomal dominant trait with variable penetrance, is characterized by white forelock, eye-ear symptoms and signs, and dysmorphic features. The authors describe two cases of WS with mental retardation and developmental and EEG anomalies.

What is it called when a black person has blue eyes?

Ocular Albinism

Albinism comes about when your body fails to make melanin, the pigment that gives skin, hair, and eyes their dark color. In some forms of albinism, only the eyes are affected.

What does a white forelock mean?

A white tuft of hair that grows on the forehead. It is associated with Waardenburg syndrome, and is seen in vitiligo.

How rare is Waardenburg?

Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.

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.

Are blue eyes a genetic disorder?

Scientists have tracked down a genetic mutation which took place 6,000-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today. New research shows that people with blue eyes have a single, common ancestor.

Is blonde hair a result of inbreeding?

No, they don't. Blonde hair seems to have appeared more than once in humans. Which means that different blondes trace back their blonde hair to different ancestors. This is actually true of a lot of different traits.

What does having 2 different colored eyes mean?

Heterochromia is when a person has differently colored eyes or eyes that have more than one color. Most of the time, it doesn't cause any problems. It's often just a quirk caused by genes passed down from your parents or by something that happened when your eyes were forming.

What does wide spaced eyes mean?

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal.

Can 2 brown eyed people have a blue eyed baby?

For two parents with brown eyes to have a blue-eyed child, both parents must genetically be Bb. When this happens, there is a 1 in 4 chance that these parents will have a bb child with blue eyes.

What is the best eye color to have?

Results found that blue was the most attractive eye color in males, garnering 47 out of 173 total matches—or 27.17 percent. The next most popular color was brown, with 21.97 percent of votes, followed by green with 16.76 percent, hazel with 15.03 percent, and black with 10.98 percent.

Does Waardenburg syndrome affect cognition?

2 Waardenburg syndrome does not usually cause cognitive (thinking and learning) problems or mood or psychiatric effects.

Is there a test for Waardenburg syndrome?

Mutations in multiple genes are known to cause Waardenburg Syndrome (WS) (Pingault et al. 2010). WSI and III: Molecular genetic testing by sequencing of PAX3 detects more than 90% of disease-causing mutations. Partial and full gene deletions have also been documented.

How rare is a white forelock?

Waardenburg syndrome type 1

The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1.

What is Angelina Jolie eye color?

Angelina Jolie

Angelina, apart from her award-winning roles, humanitarian efforts and plump lips, is known for her gorgeous blue eyes which are considered one of the sexiest in the world.

What are gray eyes?

Gray eyes may be called “blue” at first glance, but they tend to have flecks of gold and brown. And they may appear to “change color” from gray to blue to green depending on clothing, lighting, and mood (which may change the size of the pupil, compressing the colors of the iris).

What does ice blue eyes mean?

As a reflection of character, this variety of blue eyes indicates the coolness (as in Rule of Cool) or even coldness (as in cold and calculating) of the person who has them. Tends to overlap with Elemental Eye Colours, Blue Is Calm, and Blue Means Cold if the character is An Ice Person. Contrast Innocent Blue Eyes.