The rare inherited disorder often starts in infancy. Here are some characteristics:
Affects about one in 100,000 births.
Children usually have a progressive loss or narrowing of the bile ducts, causing a buildup of bile in the liver. Cirrhosis occurs in about 30 percent to 50 percent of those affected.
Abnormalities in the cardiovascular system, spinal column, eyes and kidneys.
Symptoms often improve between ages 4 and 10.
Unknown life expectancy. Many adults with the disorder lead normal lives.
No known cure.
Symptoms include, but are not restricted to: yellow skin color that does not go away after a few weeks, dark yellow or brown urine, pale stools, enlarged and hardened liver.
Poor growth and weight gain within the first three months of life have been observed along with narrowing of the pulmonary artery, the vessel connecting the heart to the lungs, enlarged spleen and an extra circular line on the eye.
Treatment often includes medications to increase bile flow and improve digestion.