Case report A thirty-six year-old African man, born in the Southern part of Libya, presented with congenital deafness and a white forelock. He was noted to have variable-sized hypopigmented and depigmented patches. [ijdvl.com]

April 16, 2019; 92 (16) Resident & Fellow Section First published April 15, 2019, DOI: https://doi.org/10.1212/WNL.0000000000007318 A 5-year-old boy presented with bilateral congenital sensorineural hearing loss and bilateral isohypochromia iridis without [n.neurology.org]

CASE REPORT A Turkish family presented with two of three sons showing clinical symptoms of WS type 2. [bjo.bmj.com]

In some individuals with WS, additional facial abnormalities may be present. [rarediseases.org]

Features are present from birth. As it is a rare condition and clinical signs can be subtle, diagnosis may not be made until later in life. Four major clinical subtypes of Waardenburg syndrome have been identified. [dermnetnz.org]

• Depigmented Skin Patch

  Some reports suggest that heterochromia irides may be more frequent in WS2 while the presence of a white forelock and depigmented skin patches are more common in those with WS1. Some individuals with WS are also affected by congenital deafness. [rarediseases.org]

• Hearing Impairment

  Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]

  Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half.[1] Progressive hearing loss has also been reported in some people with WS2.[3] In [rarediseases.info.nih.gov]

  Congenital sensorineural hearing impairment MedGen UID: 356101 •Concept ID: C1865866 • Congenital Abnormality A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  All affected individuals have profound to mild hearing impairment (HI). W index was less than 1.95 mm for each affected individual, therefore, dystopia canthorum was considered as absent. This feature helped us in excluding WS type 1 (Fig 2). [journals.plos.org]

  Cataract 41 116400 WFS1 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 WRN Werner syndrome, 277700 YAP1 Coloboma, ocular, 120433 YAP1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation [qgenomics.com]

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

Standard Therapies Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Treatment may include the use of hearing aids and/or cosmetic products or treatments (if desired) for skin hypopigmentation.[1] Waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when the responsible gene can [rarediseases.info.nih.gov]

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. [ijdvl.com]

What is the treatment for Waardenburg syndrome? There is no direct treatment for Waardenburg syndrome itself, and as it is a genetic condition there is no cure. Genetic counselling may be beneficial for affected patients who want to start a family. [dermnetnz.org]

PMID: 9192262Free PMC Article Prognosis Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

PMID: 12180152Free PMC Article Etiology Li S, Guo M, Ruan B, Liu Y, Cui X, Han W, Li R Genet Test Mol Biomarkers 2020 May;24(5):249-255. Epub 2020 Apr 3 doi: 10.1089/gtmb.2019.0231. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps. [rarediseases.org]