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Waardenburg syndrome is a group of genetic conditions that can produce sensorineural hearing loss, changes in pigmentation of the hair, skin, and eyes, craniofacial alterations, musculoskeletal limb abnormalities, and Hirschsprung disease. , It accounts for 1% to 3% of all cases of congenital deafness and is usually inherited in an autosomal dom...
Nov 13, 2018 · Experts at Mayo Clinic diagnosed Aida with a condition called Waardenburg syndrome, a rare genetic disorder that causes deafness and pigment changes of the hair, eyes and skin. In October, a surgical team at Mayo placed cochlear implants into Aida's head with the hopes that the devices would wake up her ears.
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What are the primary features of Waardenburg syndrome (WS)?
What is Waardenburg syndrome type 1?
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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.
burg syndrome within his first year of life. She was discharged with no symptoms. Waardenburg syndrome is a group of ge-netic conditions that can produce sensori-neural hearing loss, changes in pigmentation of the hair, skin, and eyes, craniofacial alter-ations, musculoskeletal limb abnormalities, and Hirschsprung disease.1,2 It accounts for
Jul 4, 2023 · As it is a genetic disease, there is no definitive treatment for Waardenburg syndrome, but supportive treatment with cochlear implants and surgery in case of association with Hirschsprung syndrome can be done. Genetic counseling is necessary.
- Naila Ahmed jan, Ryan K. Mui, Sadia Masood
- 2023/07/04
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).
Sep 29, 2021 · Waardenburg syndrome is a genetic disorder whose primary phenotypic features include a white forelock, vibrant blue eyes or heterochromia due to lack of pigmentation of the iris, distinctive facial abnormalities (laterally displaced inner canthi and a wide nasal bridge), sensorineural hearing loss, and upper extremity malformations . The ...
