Piebald Trait-neurologic Defects 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.
Clinical FeaturesTop most frequent phenotypes and symptoms related to Piebald Trait-neurologic Defects Syndrome
- Intellectual disability
- Hearing impairment
- Sensorineural hearing impairment
- Hypopigmentation of the skin
- Cutaneous photosensitivity
- Aganglionic megacolon
- Neoplasm of the skin
- Hypopigmented skin patches
And another 9 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Piebald Trait-neurologic Defects Syndrome Is also known as telfer-sugar-jaeger syndrome.
Researches and researchersCurrently, 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.
Sources and references
You can check the following sources for additional information.ORPHANET OMIM MESH Genetic Syndrome Finder
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2