What chromosome is affected in Alagille syndrome?

Alagille syndrome is predominately caused by changes in a gene called Jagged1 located on chromosome 20. In 3 to 5 percent of cases, the entire gene is deleted (missing) from one copy of chromosome 20.

What does Alagille syndrome affect?

Alagille syndrome is a genetic disorder in which you have fewer bile ducts than normal in your liver. Alagille syndrome can be passed from parent to child or happen naturally. Alagille syndrome not only affects the liver, it can also cause skin, heart, facial, kidney, and eye abnormalities.

How rare is Alagille?

The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population.

What is Alagille syndrome baby?

Alagille syndrome is a condition in which the liver has too few bile ducts. Children with this syndrome will typically experience a progressive loss of the bile ducts inside the liver and a narrowing of the bile ducts outside the liver within the first year of life.

Is Alagille syndrome detectable prior to birth?

Although Alagille syndrome is present from birth, it is often not diagnosed until later in childhood, particularly in less severe cases with few symptoms. To diagnose Alagille syndrome, a clinician will typically conduct a physical examination and order some or all of the following tests: blood test. urinalysis.

Does Alagille syndrome affect the brain?

People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys.

How do you test for Alagille syndrome?

During a liver biopsy, a doctor will take small pieces of tissue from your liver. A pathologist will examine the tissue under a microscope to look for features of specific liver diseases, such as Alagille syndrome, and check for liver damage and cirrhosis.