Living with Knuckle pads, deafness AND leukonychia syndrome
A genetic condition with hearing loss, white or crumbly nails, and wart-like pads on the knuckles.
Understanding Knuckle pads, deafness AND leukonychia syndrome
Nails are often white (leukonychia) and may be thick and crumbly. Wart-like knuckle pads grow on the knuckles of the fingers and toes, and skin on the palms and soles may thicken. Skin changes usually appear in childhood. Hearing loss ranges from moderate to profound and is typically present at birth. Almost everyone has hearing loss, but other features vary even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from birth
- Knuckle pads
- Thick skin on palms and soles
- White nails (leukonychia)
- Thick, crumbly nails
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 GJB2 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
Foundation for Ichthyosis and Related Skin Types and 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: Foundation for Ichthyosis and Related Skin Types, 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 Foundation for Ichthyosis and Related Skin Types 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
Changes in the GJB2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: bart-pumphrey syndrome; knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; knuckle pads, leukonychia, and sensorineural deafness
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesKnuckle pads, deafness AND leukonychia syndrome · United States
- Hearing Loss Association of AmericaKnuckle pads, deafness AND leukonychia syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Knuckle pads, deafness AND leukonychia syndrome.
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