ORPHA:1414
Cholestasis-lymphedema syndrome
Also called Aagenaes syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1414 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Jaundice
- Lymphedema
- Biliary tract abnormality
- Nausea and vomiting
- Abdominal pain
- Hepatomegaly