Management Guidelines
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Waardenburg syndrome type I (WS1), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Audiology evaluation
Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of WS1 in order to facilitate medical and personal decision making
Treatment of Manifestations
Management of the hearing loss associated with WS1 depends on its severity (see Deafness and Hereditary Hearing Loss Overview). Cochlear implantation has been successful in individuals with Waardenburg syndrome [, , , ].
Surveillance
The hearing loss in WS1 is typically non-progressive. Hence, repeat audiogram would usually not be necessary.
Evaluation of Relatives at Risk
It is appropriate to evaluate at-risk relatives of an affected individual to allow early screening of those at risk for hearing loss. Evaluations can include:
Molecular genetic testing if the pathogenic variant in the family is known;
Physical examination for the clinical features of WS1 and audiology evaluation if the pathogenic variant in the family is not known.
See for issues related to testing of at-risk relatives for genetic counseling purposes.
Pregnancy Management
Folic acid supplementation in pregnancy has been recommended for w...
Source: GeneReviews — "Waardenburg Syndrome Type I"
