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]

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]

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]

We describe the first characterization of SOX10 deletions in patients presenting with WS4. We also found SOX10 deletions in WS2 cases, making SOX10 a new gene of WS2. [hal.archives-ouvertes.fr]

• Surgical Procedure

  The specific surgical procedures performed will depend upon the severity and location of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

• Constipation

  Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome. Gene. 2014 May 1. 540(2):258-62. [Medline]. Pang X, Zheng X, Kong X, et al. [emedicine.medscape.com]

  Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. [medlineplus.gov]

  Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. https://ghr.nlm.nih.gov/condition/waardenburg-syndrome [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome. Gene. 2014;540(2):258-62. Jelena B, Christina L, Eric V, Fabiola QR. [rarediseases.org]

  Detailed examination ruled out the presence of upper limb malformations and chronic constipation. This ruled out WS type III and WS type IV in this family. [journals.plos.org]

• Blue Eyes

  People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. [medlineplus.gov]

  Severe fundus pigmentary disturbances were found in the left (blue) eye, with extensive albinoid areas nasally and on the posterior pole, whereas the temporal region showed a homogeneous area of dense hyperpigmentation. [bjo.bmj.com]

  eyes); or abnormal pigmentation of the fundus Type 2 Type 2 has similar clinical features to type 1 Waardenburg syndrome, but the inner canthi are normal. [dermnetnz.org]

  As a result, affected individuals may have unusually pale blue eyes or differences in the pigmentation of the two irides or within different areas of the same iris (heterochromia irides). [rarediseases.org]

• Piebaldism

  Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutaneous Med Surg 1997;16:15–23. CAS Article Google Scholar 30 Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otolaryngol 1959;73:355–83. [nature.com]

  Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatr Dermatol. 2019 Jan. 36 (1):72-84. [Medline]. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. [emedicine.medscape.com]

• White Eyebrows

  White eyebrow MedGen UID: 373165 •Concept ID: C1836737 • Finding White color (lack of pigmentation) of the eyebrow. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased [rarediseases.info.nih.gov]

• Hearing Impairment

  impairment 0008527 Hypoplastic iris stroma 0007990 Partial albinism Partial absent skin pigmentation 0007443 Synophrys Monobrow Unibrow [ more ] 0000664 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Variable expressivity 0003828 [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]

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

  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]

• Hypertelorism

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Rarely, affected individuals also have widely spaced eyes (ocular hypertelorism). As mentioned previously, researchers have described different forms of WS based upon certain symptoms and specific genetic findings. [rarediseases.org]

• Broad Nasal Bridge

  nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

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

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]

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

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]