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)|
|Premature graying of hair||90%|
|Sensorineural hearing impairment||90%|
|Hypopigmented skin patches||50%|
|Abnormality of the kidney||7.5%|
|Abnormality of the pulmonary artery||7.5%|
|Autosomal dominant inheritance||-|
|Congenital sensorineural hearing impairment||-|
|Hypoplastic iris stroma||-|
|Underdeveloped nasal alae||-|
|Wide nasal bridge||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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My wife has complete heterochromia. Her left eye is brown and right eye is blue. Also, she is deaf in her left ear. I think she is suffering from Waardenburg syndrome. However, no one in her family is suffering from this syndrome. I think she has Waardenburg type 2 because she doesn't have other symptoms. Can you please tell me what are the chances that our baby can suffer from this syndrome and what precautions we can take? See answer
Is there any way to tell what subtype of Waardenburg syndrome type 2 one has by physical exam? See answer
Is hearing loss in people with Waardenburg syndrome type II likely to be progressive? See answer