Living with Piebald trait-neurologic defects syndrome
A rare inherited condition with patches of pale skin, a white forelock, balance problems, intellectual disability, and hearing loss.
Understanding Piebald trait-neurologic defects syndrome
People have patches of pale skin on the trunk and a white lock of hair at the front. They also have balance and coordination problems, intellectual disability of varying severity, and hearing loss that worsens slowly. GARD notes there have been no further descriptions in the medical literature since 1971.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patches of pale skin
- White forelock or loss of hair color
- Problems with balance and coordination (ataxia)
- Intellectual disability
- Hearing loss from the inner ear
- Sun-sensitive skin
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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 Children's Skin Disease Foundation
- 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 genes (also called variants) cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it. GARD doesn't list a specific gene.
Also known as: piebald trait neurologic defects; piebald trait with neurologic defects; piebald trait with neurologic defects syndrome; telfer sugar jaeger syndrome; telfer-sugar-jaeger syndrome; white forelock and leukoderma with neurological impairment
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Piebald trait-neurologic defects syndrome.
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