[citation needed] Another one of the symptoms is hearing loss, presenting in about 69% of cases.[2] The types of hearing loss reported in patients differ over a great spectrum. [en.wikipedia.org]

Presentation of Case: A 7-year old Filipino girl was referred for ophthalmologic evaluation for bilateral blue eyes. She also presented with an eyebrow flare, broad nasal root, dystopia canthorum, heterochromic fundi and mild hearing loss. [sciencedomain.org]

Case presentation : We present a 9 months old male child which attended the regular clinic with features of Waardenburg syndrome type I as dystonia canthorum, heterochromiairidis and skin pigmentations anomalies. [scitechnol.com]

[…] with characteristic manifestations of WS, with an emphasis on late presentation and hence improper development of speech and language skills. [healio.com]

The boy presented with heterochromia iridis and bilateral hearing loss, but did not show dystopia canthorum. [bmjopen.bmj.com]

• Short Arm

  Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered. Therefore, “chromosome 2q35” refers to band 35 on the long arm of chromosome 2. [rarediseases.org]

• Hearing Impairment

  For example, a person with WS may have a white forelock, a patch of white hair near the forehead, and no hearing impairment. Others may have white patches of skin and severe hearing impairment. [daviddarling.info]

  Synonyms WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM Classification developmental, eye, genetic, otorhinolaryngological, skin Phenotypes Aplasia of the vagina ; Autosomal dominant inheritance ; Blepharophimosis ; Blue irides ; Congenital sensorineural hearing [mousephenotype.org]

  Waar·den·burg syn·drome ( văr-den-berg ), [MIM*193500, MIM*193510] disorder characterized by lateral displacement of inner canthi (dystopia canthorum), broad nasal root, heterochromia iridis, sensory hearing impairment, white forelock, and synophrys; [medical-dictionary.thefreedictionary.com]

  Management of Deafness or Hearing Impairment Once diagnosed with Waardenburg syndrome, the child or infant must begin with programs to manage the hearing impairment. [syndromespedia.com]

• Premature Graying of the Hair

  graying of the hair (before age 30). [escholarship.org]

  […] corner of the eye displaced to the side (dystopia canthorum) Minor criteria: Patches of light or white skin Eyebrows extending toward middle of face Nose abnormalities Premature graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as [verywell.com]

  Hypopigmented eyes, hair and skin – White pigmentations can be present in the skin, a lock of gray or white hair growing prematurely can be seen, and a pale color of eyes is noted and the color can be different in both eyes. [syndromespedia.com]

  Minor criteria include skin hypopigmentation (congenital leukoderma/ white skin patches), medial eyebrow flare (synophrys), broad nasal root, hypoplasia alae nasi, and premature graying of the hair. [panafrican-med-journal.com]

  Premature graying of scalp hair, eye brows, cilia or body hair has been reported to occur in 7% cases. [12] Partial or complete heterochromia iridis occurs in 21 to 28% of patients with WS, hypoplastic blue iridis occur in 14.9 to 42% of cases. [1] Fundus [ijdvl.com]

• High, Broad Nasal Root

  Physical examination revealed characteristic sapphire-blue irises, dystopia canthorum, high broad nasal root, synophrys, low anterior hairline, mild frontal bossing and deaf-mutism (Fig. 1). [escholarship.org]

Treatment or Management of the Condition There are no treatments of the syndrome; however, hearing aids maybe needed for some individuals and maybe some sort of schooling for the hearing impaired individuals. [wiki.ggc.edu]

No treatment is discovered for the treatment of this type of Waardenburg Syndrome. Discuss Waardenburg Syndrome Type 1 in our forums Discuss Waardenburg Syndrome Type 1 with other members of Medigest in our forums. [medigest.uk]

Exams and Tests Tests may include: Audiometry Bowel transit time Colon biopsy Genetic testing Treatment There is no specific treatment. Symptoms will be treated as needed. [mountsinai.org]

Treatment Treatment Options: No ocular treatment is necessary. Patients may benefit from cochlear implants. [disorders.eyes.arizona.edu]

Treatment Self treatment : Most simple boils can be treated at home. Ideally, the treatment should begin as soon as a boil is noticed. Early treatment may prevent later complications. [livingnaturally.com]

Associations cleft lip and palate Hirschsprung disease CT scan inner ear abnormalities, including aplasia of the posterior semicircular canal 6,7 Treatment and prognosis hearing loss: hearing augmentation cochlear implantation for severe hearing loss [radiopaedia.org]

Outlook (Prognosis) Once hearing problems are addressed, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications. [mountsinai.org]

The authors present such a case of long segment aganglionosis in a 4-day-old male with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis. [panafrican-med-journal.com]

Molecular Etiology of Hereditary Single-Side Deafness. Medicine, Vol. 94, Issue. 43, p. e1817. [cambridge.org]

[…] premature greying different colored eyes Etiology [ edit ] WT1: PAX3 gene on chromosome 2 (2q35) codes for DNA binding transcription factors expressed in the early embryo WS2: MITF gene mutations (3p14.1-p12.3) have been described in 10-20% MITF gene [en.wikibooks.org]

This observation suggests that genetic background may play a major role in the etiology of some of the clinical attributes of these syndromes in both human (32–34) and murine (35) models of WS. [academic.oup.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Epidemiology of Waardenburg Syndrome (WS) Waardenburg syndrome affects both males and females of all races. [syndromespedia.com]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.it]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

Researchers believe that all PAX3 gene mutations have the same effect: they prevent the PAX3 protein from binding to DNA and regulating the activity of other genes. [ghr.nlm.nih.gov]

Genetic Counseling Waardenburg syndrome can be prevented by genetic counseling. [syndromespedia.com]

Therefore, prevention by genetic counseling/testing is cost-effective as a preventive strategy and, therefore, highly advocated. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. [tjmrjournal.org]

Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss [babyhearing.org]