Piebald trait-neurologic defects syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Telfer-Sugar-Jaeger syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Piebald trait-neurologic defects syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.