2022年7月26日 · Alagille syndrome, also called Alagille-Watson syndrome, is a genetic condition that affects your liver and heart, along with other parts of your body. The condition can cause liver damage and structural heart abnormalities.

Alagille syndrome is an autosomal dominant inherited disorder associated with liver, heart, eye and skeletal abnormalities, and characteristic facial features.

Alagille syndrome can also affect other parts of the body including the heart, brain, kidneys, blood vessels, eyes, face, and skeleton. People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin.

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.

2023年8月12日 · Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder with a wide variety of clinical manifestations. It is also known as arteriohepatic dysplasia, Alagille-Watson syndrome, Watson-Miller syndrome, or syndromic bile duct paucity.

Alagille Syndrome is an autosomal-dominant inherited disease caused by mutations in the JAG1 and NOTCH2 genes. First described by its characteristic intrahepatic bile duct hypoplasia, Alagille Syndrome is now known to impact multiple organ systems.

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.

Alagille Syndrome (OMIM #118450) is the most commonly encountered rare cholestatic liver disease seen by pediatric hepatologists. It can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys.

2023年9月22日 · Roughly 70%–96% of people with the condition will have distinct facial features, such as deep and wide-set eyes, a pointed chin, a broad forehead that shapes the face like an inverted triangle, and a straight nose with a rounded tip. These facial features are harder to see in infants, but as a person ages, they become more apparent.

Alagille syndrome is a rare, multisystem disease that can affect the liver, heart, face, eyes, kidneys, and spine. Symptoms of Alagille syndrome are typically experienced in early childhood. The most challenging symptom is often an unbearable itch, also known as cholestatic pruritus. Need help describing Alagille syndrome to your child?