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Feb 8, 2018 · Waardenburg Syndrome Support and Awareness | Facebook. Private group. ·. 435 members. Join group. About this group. Private. Only members can see who's in the group and what they post. Visible. Anyone can find this group. History. Group created on February 8, 2018. See more. Members · 435. Activity. No new posts today. 15 in the last month.
Disease-Specific Communities. Communities, advocacy groups, and support organizations for Waardenburg syndrome. Community groups consist of other patients and families of patients with rare diseases that offer support and information on what to expect when dealing with the disease.
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What are the primary features of Waardenburg syndrome (WS)?
Who is affected by Waardenburg syndrome?
What are the different types of Waardenburg syndrome?
Can Waardenburg syndrome cause constipation?
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Primary features of Waardenburg syndrome (WS) may include distinctive facial abnormalities; unusually diminished pigmentation (hypopigmentation) of the hair, the skin, and/or the irides or the iris of both eyes (partial albinism); and/or deafness that is present at birth (congenital). However, as mentioned earlier, associated symptoms and findings ...
A fourth form of WS has also been described in which primary features of WS occur in association with Hirschsprung disease. This form of the disorder may be referred to as WS4, Waardenburg-Shah syndrome, or Waardenburg-Hirschsprung disease. Hirschsprung disease (also known as aganglionic megacolon) is a gastrointestinal (GI) disorder characterized ...
In most cases, Waardenburg syndrome type I (WS1) and type II (WS2) are inherited as autosomal dominant traits with variable penetrance and expressivity. Some cases of Waardenburg syndrome type III (WS3) and type IV (WS4) appear to have an autosomal recessive pattern of inheritance. Mutations in the EDN3, EDNRB, MITF, PAX3 and SOX10 genes cause Waar...
The function of the PAX3 gene remains unknown. However, some researchers suggest that PAX3 helps to regulate the functioning of another gene (known as MITF) that has been implicated in some cases of WS2. The MITF gene is thought to regulate the production of a protein that plays an essential role in the development of certain pigment (melanin)-prod...
Waardenburg syndrome (WS) is named after the investigator (PJ Waardenburg) who first precisely described the disorder in 1951. At least 1,400 cases have since been recorded in the medical literature. Evidence suggests that WS may have a frequency of approximately one in 40,000 births and account for about two to five percent of cases of congenital ...
Symptoms of the following disorders may be similar to those of Waardenburg syndrome (WS). Comparisons may be useful for a differential diagnosis: Waardenburg syndrome (WS) may be diagnosed at birth or early childhood (or, in some cases, at a later age) based upon a thorough clinical evaluation, identification of characteristic physical findings, a ...
There are a number of disorders that may be characterized by certain features similar to those seen in WS. For example, according to researchers, such disorders may include familial cases of partial albinism and deafness; familial cases of vitiligo and congenital sensorineural deafness; or a condition known as Vogt-Koyanagi-Harada syndrome. The lat...
Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in skin disorders (dermatologists); eye specialists (ophthalmologists); hearing specialists; physicians who diagnose and...
Because individuals with pigmentary abnormalities of the skin may be prone to sunburns and a risk of skin cancer, physicians may recommend avoiding direct sunlight, using sunscreen with a high sun protection factor (SPF), wearing sunglasses and coverings that help to protect against the sun (e.g., hats, long sleeves, pants, etc.), and following oth...
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 5th ed. New York, NY: Oxford University Press; 2010:1369.
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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.
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Jan 8, 2018 · A person with Waardenburg syndrome may need support to manage their condition, particularly if it affects their appearance in ways that are not easily changed. Support groups, family...
