Orphanet: Syndromic diarrhea

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Syndromic diarrhea

Disease definition

A rare gastroenterologic disease 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.


Classification level: Disorder
  • 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, Antenatal
  • ICD-10: -
  • OMIM: 222470  614602
  • UMLS: C1857276
  • MeSH: -
  • GARD: 5258
  • MedDRA: -

Detailed information


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