piebald trait-neurologic defects syndrome
Findings
No curated finding names piebald trait-neurologic defects syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Definition from the Mondo Disease Ontology (MONDO:0008245), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- PoikilodermaHPOHP:0001029
- Very frequent (80% to 99% of cases)
- Abnormal eyebrow morphologyHPOHP:0000534
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Intellectual disability
Show the remaining 2
- Heterochromia iridisHPOHP:0001100
- Occasional (5% to 29% of cases)
- Neoplasm of the skinHPOHP:0008069
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: piebald trait-neurologic defects syndrome
- Also called
- telfer-Sugar-Jaeger syndrome