What are Waardenburg symptoms?

What are Waardenburg symptoms?

Symptoms may include:

• 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 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.

Does Heterochromia affect hearing?

Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern.

Is Waardenburg syndrome life threatening?

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.

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 are the chances of having Waardenburg syndrome?

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.

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.