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Trichohepatoenteric syndrome 1

Synonyms
DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA

Summary

Excerpted from the GeneReview: Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Alexandre Fabre
Patrice Bourgeois
Charlène Chaix
view full author information

Available tests

32 tests are in the database for this condition.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KIAA0372, Ski3, THES, TTC37, SKIC3
    Summary: SKI3 subunit of superkiller complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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