Symptoma

Waardenburg Syndrome Type 2

WS2

Abstract A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting [ncbi.nlm.nih.gov]

[…] 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]

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

  • 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]

  • 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]

  • Hearing Impairment

    Affiliated tissues include skin, eye and olfactory bulb, and related phenotypes are premature graying of hair and sensorineural hearing impairment Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin [malacards.org]

    […] of dystopia canthorum (lateral displacement of the inner canthi of the eyes). 0002216 30%-79% of people have these symptoms Heterochromia iridis Different colored eyes 0001100 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing [rarediseases.info.nih.gov]

    Pigmentary disturbances were not significantly more frequent in the hearing impaired group than in the normally hearing group in either Type I or II when taking into account the occurrence of only one pigmentation disorder. [cambridge.org]

    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. [healthfully.org]

  • Progressive Hearing Loss

    Progressive hearing loss has been reported in people with Waardenburg syndrome type 2. [rarediseases.info.nih.gov]

    Progressive hearing loss has also been reported in some people with WS2. WS2 may be caused by changes (mutations) in any of several genes, but in many cases the genetic cause is unknown. [malacards.org]

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]

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

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 Different symptoms of Waardenburg syndrome appear in different people, even within the same family. Some individuals will require no treatment while others may need surgery or eye or other abnormalities. [verywell.com]

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]