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Aagenaes Syndrome DefinitionQ. What is Aagenaes Syndrome?
Ans. Classified as a rare disorder by Orphanet, Aagenaes Syndrome is an autosomal recessive condition and presents with chronic and sever lymphedema and severe neonatal cholestasis, (Any condition in which the release of bile from the liver is blocked The blockage can occur in the liver (intrahepatic cholestasis) or in the bile ducts (extrahepatic cholestasis). The condition has only been studied in six families with most of them being from Norway. These studies are included below. The most common feature is a generalised lymphatic anomaly which is why we have placed it under our Syndromes of Lymphatic Dysplasia section. The cause appears to be a defect in lymphangiogenesis, but the specifics are as yet unknown. SymptomsSymptoms of Aagenaes Syndrome
1. Lymphedema 2. Obstructive Liver Disease (Intrahepatic) 3. Liver Enlargement 4. Icterus 5. Autosomal Recessive Inheritance DiagnosisDiagnosis of Aagenaes Syndrome
Diagnosis may be achieved by testing for the cause of the specific symptoms, especially in conjunction with the lymphedema. TreatmentTreatment of Aagenaes Syndrome
There is no "cure" and treatment would specifically focus on the complications such as lymphedema, possible cirrhosis of the liver, and/or a hemangioma.  Find Diseases Alphabetically 
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