Piebald Trait-neurologic Defects Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Piebald Trait-neurologic Defects Syndrome

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Hypopigmentation of the skin
  • Cutaneous photosensitivity
  • Aganglionic megacolon
  • Neoplasm of the skin
  • Hypopigmented skin patches
  • Incoordination

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Piebald Trait-neurologic Defects Syndrome Is also known as telfer-sugar-jaeger syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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