Search results
People also ask
Why is Waardenburg disease a rare disease?
Can dogs get Waardenburg syndrome?
What is Waardenburg syndrome?
Aug 15, 2022 · Waardenburg syndrome is a genetic condition that affects the coloring (pigmentation) of your skin, hair and eyes. This condition can also cause hearing loss. In rare cases, Waardenburg syndrome can cause constipation or intestinal blockages. Treatment is available to alleviate symptoms but isn’t necessary for all types of the condition.
Jan 8, 2018 · Causes of Waardenburg syndrome. The syndrome of diseases is not contagious, cannot be treated with medications, and cannot be caused by lifestyle or developmental factors. Mutations in at...
Feb 21, 2024 · Waardenburg Syndrome (also known as Waardenburg’s) is a rare genetic disorder characterized by hearing loss, unusual bone structure, and discolored skin, eyes, and hair. According to researchers, Waardenburg syndrome affects 1 in 40,000 people and accounts for 2 to 5% of all cases of congenital hearing loss.
- 5 min
Jul 4, 2023 · Waardenburg syndrome is mostly due to the genes changes in Type 1 and Type 3 due to the point mutations and can be detected by the use of multiplex ligation-dependent probe amplification in specific genes.
- Naila Ahmed jan, Ryan K. Mui, Sadia Masood
- 2023/07/04
May 21, 2015 · In most cases, Waardenburg syndrome is transmitted as an autosomal dominant trait. A number of different disease genes have been identified that may cause Waardenburg syndrome in certain individuals or families (kindreds). View Full Report. Print / Download as PDF. Next section > Programs & Resources. Assistance Programs. Patient Organizations.
Jul 30, 2001 · Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi).
Waardenburg syndrome is caused by mutations in any of several genes that affect the operation of neural crest cells in embryonic development. Most types of Waardenburg syndrome are caused by autosomal dominant mutations. The few that are autosomal recessive are rare.
