What causes a white forelock?
WS2E (611584) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13. An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss.
What’s white forelock?
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial …
What are the four types of Waardenburg syndrome?
Subdivisions of Waardenburg Syndrome
- Waardenburg syndrome type IIA (WS2A)
- Waardenburg syndrome type IIB (WS2B)
- Waardenburg syndrome type III (WS3)
- Waardenburg syndrome type II (WS2)
- Waardenburg syndrome type IV (WS4)
- Waardenburg syndrome type I (WS1)
How common 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).
Is white forelock dominant or recessive?
Piebaldism is characterized by the absence of melanocytes in patches of skin and hair and by the presence of a white forelock in around 90% of patients. Piebaldism is a rare autosomal dominant disorder in which approximately 75% of cases are due to mutations in the KIT gene.
How rare is a white forelock?
Can a person with Waardenburg syndrome have black hair?
Some with the disorder have a white forelock (poliosis) at birth that tends to disappear with age or patches of white hair other than a forelock. (There have also been cases in which a black rather than a white forelock is present.)
How many people are affected by Waardenburg syndrome?
Epidemiology of Waardenburg Syndrome (WS) Waardenburg syndrome affects both males and females of all races. Since this is an autosomal dominant condition, a parent possessing the WS gene will pass on the condition to the child 50% of the time. it is estimated that this syndrome affects 1 out of 42,000 births, with 2-62% of them presenting deafness.
Why do people with Waardenburg syndrome have blue eyes?
Waardenburg syndrome. Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye ), a white forelock or patches of light skin.
How does Waardenburg syndrome affect a ferret?
Similarly, the skin and other conditions must be treated accordingly by the specialists. Among the animals, Waardenberg syndrome is fairly common with in ferrets. Similar to human beings, ferrets also presents with hearing loss and pigmentation abnormality in the coat.