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Start free with EleplanTrichohepatoenteric syndrome
ORPHA:84064Disease
Also called Phenotypic diarrhea · SD/THE · Syndromic diarrhea · Syndromic diarrhea/Tricho-hepato-enteric syndrome · Tricho-hepato-enteric syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
21- Abnormality of the liver
- Abnormal skin morphology
- Brittle hair
- Broad forehead
- Cirrhosis
- Dependency on intravenous nutrition
- Global developmental delay
- Hepatic fibrosis
- Hepatomegaly
- Hypertelorism
- Hypopigmentation of hair
- Intellectual disability, mild
- Intrauterine growth retardation
- Panhypogammaglobulinemia
- Prominent forehead
- Short stature
- Small for gestational age
- Trichorrhexis nodosa
- Uncombable hair
- Villous atrophy
- Wide nasal bridge
Sometimes5–29%
10- Abnormal heart morphology
- Abnormality of iron homeostasis
- Cafe-au-lait spot
- Colitis
- Dry skin
- Gastritis
- Increased mean platelet volume
- Lymphopenia
and 2 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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