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piebald trait-neurologic defects syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

piebald trait-neurologic defects syndrome

MONDO:0008245

Also known as:telfer-Sugar-Jaeger syndromeWhite forelock and leukoderma with neurological impairmentpiebald trait neurologic defects

Overview

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.

GeneticsAutosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Cutaneous photosensitivity, Poikiloderma, Hypopigmented skin patches, and Hypopigmentation of hair; and common findings: Ataxia, Intellectual disability, Inner ear hearing loss (sensorineural hearing impairment), and Abnormal eyebrow morphology and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Cutaneous photosensitivity, Hypopigmented skin patches, Irregular hyperpigmentation

Diagnosis

Biomarker and diagnostic research for piebald trait-neurologic defects syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for piebald trait-neurologic defects syndrome.

162 publications have been identified in PubMed for piebald trait-neurologic defects syndrome. Research spans Review / Meta-Analysis (52%), Basic Science / Preclinical (22%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Research summaries	84	52%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:172850

Orphanet

European rare disease database

Orphanet:2885

GARD

Genetic and Rare Diseases Info Center

GARD:5133

Questions for Your Care Team

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Kisho

piebald trait-neurologic defects syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

piebald trait-neurologic defects syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications