Living with Albinism-hearing loss syndrome
A rare X-linked condition with hearing loss from birth and patches of skin without color, but no eye albinism.
Understanding Albinism-hearing loss syndrome
There is no ocular albinism, which means the eyes are not affected. It has been described in one large family. Affected males have profound hearing loss from nerve damage and severe skin color changes. Carrier females have variable hearing loss but no skin color changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from nerve damage (sensorineural)
- Patches of skin without color
- Piebald skin (white patches)
- Darker patches of skin
- Partial albinism
- Speech differences
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says it is passed on in an X-linked way. The gene has been mapped to a region of the X chromosome (Xq26.3-q27.1).
Also known as: albinism with deafness syndrome; albinism-deafness syndrome; woolf's syndrome; ziprkowski–margolis syndrome
Patient organizations
- Hearing Loss Association of AmericaAlbinism-hearing loss syndrome · United States
- The National Organization of Albinism and Hypopigmentation (NOAH)Albinism-hearing loss syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Albinism-hearing loss syndrome.
Explore research for Albinism-hearing loss syndrome
Explore actively recruiting Albinism-hearing loss syndrome studies with HealthSpark.
Find actively recruiting studies for Albinism-hearing loss 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 Albinism-hearing loss 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 Albinism-hearing loss 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 Albinism-hearing loss 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.