tricho-hepato-enteric syndrome
ORPHA: 84064
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with tricho-hepato-enteric syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal facial shapeIntractable diarrheaWoolly hairImmunodeficiencyHypertelorismBroad foreheadWide nasal bridgeMild intellectual disabilityGlobal developmental delayAbnormality of the liverCirrhosisHepatic fibrosisIntrauterine growth retardationSmall for gestational ageHepatomegalyBrittle hairPanhypogammaglobulinemiaShort statureHypopigmentation of hairTrichorrhexis nodosaAbnormal skin morphologyProminent foreheadVillous atrophyDependency on intravenous nutritionUncombable hairCafe-au-lait spotDry skinAbnormal heart morphologyDecreased total lymphocyte countThrombocytosisColitisRecurrent infectionsGastritisAbnormality of iron homeostasisIncreased mean platelet volumeInguinal herniaRenal hypoplasiaPolycystic kidney dysplasiaGlaucomaHypoplasia of the thymusHypothyroidismVentricular septal defectAtrial septal defectTetralogy of FallotPatent ductus arteriosusBicuspid aortic valveAortic regurgitationSplenomegalyHepatoblastomaPeripheral pulmonary artery stenosisGeneralized hypopigmentationBloody diarrhea
Classification & Codes
Orphanet Code
ORPHA:84064tricho-hepato-enteric syndrome
| Orphanet | ORPHA:84064 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO