Aagenaes syndrome
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
MONDO:0002254
syndromic disease
is_a
MONDO:0005154
liver disorder
is_a
MONDO:0019175
primary lymphedema
is_a
Aagenaes syndrome
exact
LCS
related
LCS1
related
cholestasis lymphedema syndrome
related
lymphedema cholestasis syndrome
related