Aagenaes syndrome
MeSH: C535330ORPHA: 1414
Overview
syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts
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 Aagenaes syndrome, sourced from HPO and Orphanet clinical annotations.
JaundiceAbnormality of skin pigmentationLymphedemaMultiple lipomasBiliary tract abnormalityCirrhosisPortal hypertensionSplenomegalyNausea and vomitingAbdominal painGastrointestinal hemorrhageHepatomegalyBone painHyperlipidemiaAbnormality of urine homeostasisReduced bone mineral densityNeonatal cholestatic liver diseaseAcholic stoolsFatigueAbnormality of the lymphatic system
Classification & Codes
MeSH Code
C535330Orphanet Code
ORPHA:1414Aagenaes syndrome
| MeSH | C535330 |
| Orphanet | ORPHA:1414 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO