Presentation
In some individuals with WS, additional facial abnormalities may be present. [rarediseases.org]
[…] 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]
Entire Body System
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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]
Gastrointestinal
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Constipation
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]
Eyes
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Heterochromia Iridis
Affiliated tissues include eye and skin, and related phenotypes are sensorineural hearing impairment and heterochromia iridis Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital [malacards.org]
WS2 differs from type 1 and some other types of WS by the absence 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 [rarediseases.info.nih.gov]
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Ptosis
[…] hair above forehead 0002211 5%-29% of people have these symptoms Abnormality of the kidney Abnormal kidney 0000077 Abnormality of the pulmonary artery Abnormality of lung artery 0004414 Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Ptosis [rarediseases.info.nih.gov]
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Blue Eyes
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]
Ears
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Hearing Impairment
Affiliated tissues include eye and skin, and related phenotypes are sensorineural hearing impairment and heterochromia iridis Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital [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]
Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]
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Hearing Impairment
Affiliated tissues include eye and skin, and related phenotypes are sensorineural hearing impairment and heterochromia iridis Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital [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]
Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Prevention
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]