The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations [ncbi.nlm.nih.gov]

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

[…] child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier Identifying the gene responsible for WS2 is necessary to determine the subtype that is present [rarediseases.info.nih.gov]

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

• Follicular Hyperkeratosis

  It was also noted that there was generalized follicular hyperkeratosis, which could be a co-incidental finding. Keywords: Rare, sensorineural deafness, Waardenburg syndrome How to cite this article: Gaikwad RP, Mukherjee S, Saha A, Naphade P. [ijpd.in]

• Sparse Eyebrows

  Ocular examination showed sparse eyebrows medically and total heterochromia irides. Multiple tiny pinpoint hyperkeratotic papules were scattered all over the body [Figure 3]. [ijpd.in]

• Winged Scapula

  The bony anomalies associated with this condition include the syndactyly, hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, and winged scapulae. [5] WS type 4 is known as Shah-WS (these patients have Hirschsprung [ijpd.in]

• 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]

• Retinal Pigmentation

  pigment or pigmentary mottling in the periphery). [indianjotol.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]

  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]

  Additional information on hearing impairments may be obtained from the NIDCD Clearinghouse. Write to: NIDCD Clearinghouse P.O. [the-medical-dictionary.com]

  Most of the children (n = 9) were attending a school for the deaf or hearing impaired at the 3-year follow-up. Two children (patients 3 and 6) attended special educational settings for the deaf or hearing impaired with additional disabilities. [karger.com]

Treatment Treatment Options: No ocular treatment is necessary but assistive hearing devices can be helpful. [disorders.eyes.arizona.edu]

As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition. [ncbi.nlm.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment may include the use of hearing aids and/or cosmetic products or treatments (if desired) for skin hypopigmentation. [malacards.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]

Diagnosis and Prognosis: In most cases no treatment is required. Fused fingers can sometimes be separated, deafness may be treated with hearing aids, and colon malfunction can be surgically treated. Lifespan is normal. [disorders.eyes.arizona.edu]

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]

On the other hand, Waardenburg syndrome can be considered a disease because the etiology is known. [medlink.com]

[…] 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]

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.de]

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

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

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

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]

Once the locations of the WS genes are found, scientists can develop gene therapy which may prevent or lessen the hearing loss associated with the disease. [the-medical-dictionary.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]