What Are The Symptoms Of Waardenburg Syndrome?

• Cleft lip (rare)
• Constipation.
• Deafness (more common in type II disease)
• Extremely pale blue eyes or eye colors that don’t match (heterochromia)
• Pale color skin, hair, and eyes (partial albinism)
• Difficulty completely straightening joints.
• Possible slight decrease in intellectual function.

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.

How do you know if you have Waardenburg syndrome?

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. This is known as heterochromia iridis.

What does Waardenburg syndrome look like?

Deafness (more common in type II disease) Extremely pale blue eyes or eye colors that don’t match ( heterochromia ) Pale color skin, hair, and eyes (partial albinism) Difficulty completely straightening joints.

How do you treat Waardenburg syndrome?

1. cochlear implants or a hearing aid to treat hearing loss.
2. developmental support, such as special schools, for children with severe hearing loss.
3. surgery to prevent or remove blockages in the intestines.

What is Blue eye syndrome?

Blue eye disease (BED) is the common name for a disease caused by a porcine rubulavirus (Paramyxoviridae; La Piedad Michoacan virus) that is characterized in nursing or growing pigs by central nervous system (CNS) signs and, frequently, by corneal opacities.

Is there a test for Waardenburg syndrome?

Is a 7 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of Waardenburg Syndrome Types I-IV. As differential diagnosis, piepaldism caused by KIT variants is included.

What is Waardenburg syndrome type 4?

Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome, is a genetic condition that can cause hearing loss ; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.

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 .

What is Kleine syndrome?

Definition. Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day).

How rare is a white forelock?

Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock).

What are the different types of Waardenburg syndrome?

This means only one parent has to pass on the faulty gene for a child to be affected. 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.

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.

How was Waardenburg syndrome discovered?

Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss, dystopia canthorum (ie, lateral displacement of the inner canthi of the eyes), and retinal pigmentary differences.

Why are people’s eyes so far apart?

Hypertelorism is an increase in the distance between the bony orbits, in which the eyes lie. It can be due to a variety of causes. During development as an embryo , the eyes lie widely apart and gradually move closer together.

What is it called when people’s eyes are far apart?

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.