Alagille Syndrome

What is Alagille syndrome?

The syndrome is usually diagnosed during infancy or early childhood. Alagille syndrome causes progressive destruction of the bile ducts. Over time, people with Alagille syndrome can develop liver disease.

Alagille syndrome often affects other major organs in the body, including the heart, eyes, kidneys and spine. Children with Alagille syndrome tend to have unique facial characteristics: a pointy chin, broad brow and widely spaced eyes.

About one in every 30,000 children is born with Alagille syndrome. It affects boys and girls and people of all races at equal rates.

What are the symptoms of Alagille syndrome?

The symptoms of Alagille syndrome vary from child to child and are more severe in some children than others.

Liver problems are often the first visible sign of this condition. Newborns with Alagille syndrome may have jaundice, a yellowish tint of the eyes and skin, and poor growth during their first few months.

In children more than 3 months old, symptoms may include:

  • persistent jaundice
  • severe itchiness
  • fatty deposits in the skin (xanthomas)
  • dark urine or grey or white stools
  • stunted growth or poor weight gain
  • heart murmur
  • "butterfly" shaped bones in the spinal column
  • specific facial features: pointy chin, broad brow and widely spaced eyes

Over time, a child with Alagille syndrome may experience one or more of the following complications:

What causes Alagille syndrome?

Alagille syndrome is caused by a gene mutation that can pass from parent to child. Between 30 and 50 percent of children with the condition, inherit it from one of their parents. In other children, the mutation occurs for no apparent reason.

If one parent has the gene mutation for Alagille syndrome, their children have a 50 percent chance of being born with the mutation. Even though they may not develop symptoms, a child with the gene mutation is considered to have Alagille syndrome and has a 50 percent of chance of passing the mutation on to the next generation.

How we care for Alagille syndrome

The Center for Childhood Liver Disease at Boston Children’s Hospital specializes in helping infants, children, adolescents and young adults who have a wide variety of liver, gallbladder and bile duct disorders (otherwise known as hepatobiliary). Doctors refer children with liver disease to this program at Boston Children’s Hospital from all over the world.