The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal facial shape||90%|
|Conductive hearing impairment||90%|
|Hypopigmented skin patches||90%|
|Premature graying of hair||90%|
|Prominent nasal bridge||90%|
|Tented upper lip vermilion||50%|
|Underdeveloped nasal alae||50%|
|Wide nasal bridge||50%|
|Abnormality of the vagina||7.5%|
|Aplasia/Hypoplasia of the colon||7.5%|
|Cleft upper lip||7.5%|
|Aplasia of the vagina||-|
|Autosomal dominant inheritance||-|
|Congenital sensorineural hearing impairment||-|
|Hypopigmentation of the fundus||-|
|Hypoplastic iris stroma||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Waardenburg syndrome. If you have a question about any of these diseases, you can contact GARD.
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Can your eyes be brown when having this syndrome? Like a dark brown? Or do they have to be blue, or two different eye colors? Are you born with the hair being a light color in the front or does it progress? I am twenty five, and just my bangs are turning gray in a strip. And what kind of digestive problems are associated with it? See answer
My teenage daughter has Waardenburg syndrome. Recently she has developed body hair on her chest and upper lip. Her eyebrows are also growing together. Is this due to Waardenburg syndrome? See answer