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Home  List of Disease  Aagenaes syndrome

Disease Name:Aagenaes syndrome
Aagenaes syndrome
Alternate Names:cholestasis-lymphedema syndrome
Virus Name:will be update soon
Treatment:There is no "cure" and treatment would specifically focus on the complications such as lymphedema, possible cirrhosis of the liver, and/or a hemangioma.
Description:A syndrome characterised 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 The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin. The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the U.S It is named after Oystein Aagenaes, a Norwegian paediatrician.
 
 

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