Living with Deaf blind hypopigmentation syndrome, Yemenite type
An extremely rare genetic condition affecting skin color, the eyes, and hearing.
Understanding Deaf blind hypopigmentation syndrome, Yemenite type
GARD lists onset in the newborn or infant period. People can have patches of both lighter and darker skin and eye problems. They also have hearing loss from inner ear or nerve changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from inner ear or nerve changes
- Patchy loss of skin color
- Loss of hair color
- Light eye color
- Involuntary eye movements (nystagmus)
- Crossed eyes (strabismus)
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, eye disease 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.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Helen Keller Services 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 changes in genes cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deaf blind hypopigmentation syndrome yemenite type; warburg thomsen syndrome; warburg-thomsen syndrome; yemenite deaf-blind hypopigmentation syndrome
Patient organizations
- Helen Keller ServicesDeaf blind hypopigmentation syndrome, Yemenite type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deaf blind hypopigmentation syndrome, Yemenite type.
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