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Syndromic diarrhea

Disease definition

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

ORPHA:84064

  • Synonym(s):
    • Phenotypic diarrhea
    • SD/THE
    • Syndromic diarrhea/Tricho-hepato-enteric syndrome
    • Tricho-hepato-enteric syndrome
    • Trichohepatoenteric syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 222470  614602
  • UMLS: -
  • MeSH: -
  • GARD: 5258
  • MedDRA: -

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