Living with Tietz syndrome
A genetic condition with hearing loss from birth, very light skin and hair, and blue eyes.
Understanding Tietz syndrome
The hearing loss is sensorineural, which means it comes from the inner ear. Babies are born with white hair and very pale skin, and the hair often darkens to blond or red over time. The skin sunburns very easily. The irises are blue, and cells at the back of the eye lack their normal pigment, which an eye exam can detect.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from birth
- Lighter hair color
- Patchy lighter skin
- White eyebrows
- Blue irises
- Skin that sunburns very easily
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MITF are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hearing Loss Association of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Hearing Loss Association of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hearing Loss Association of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the MITF gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: albinism-deafness of tietz; albinism-deafness syndrome of tietz; hypopigmentation-deafness syndrome; hypopigmentation-hearing loss syndrome; hypopigmentation/deafness of tietz; tads
Patient organizations
- Hearing Loss Association of AmericaTietz syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tietz syndrome.
Explore research for Tietz syndrome
Explore actively recruiting Tietz syndrome studies with HealthSpark.
Find actively recruiting studies for Tietz syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Tietz syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Tietz syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Tietz syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.