One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. This results in a build-up of bile causing scarring that prevents the liver from working properly. This may lead to jaundice, itchy skin, and deposits of cholesterol in the skin (xanthomas).
Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Other heart-related problems include a hole between the two lower chambers of the heart (ventricular septal defect) and a combination of heart defects called tetralogy of Fallot.
People with Alagille syndrome may also have distinctive facial features (including a broad, prominent forehead; deep-set eyes; and a small, pointed chin), problems with the blood vessels within the brain and spinal cord (central nervous system) and the kidneys, and an unusual butterfly shape of the bones of the spinal column (vertebrae).
Detailed information about the symptoms associated with Allagille syndrome can be accessed through the National Digestive Diseases Information Clearinghouse (NDDIC) and GeneReviews.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Biliary tract abnormality||90%|
|Ventricular septal defect||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormal nasal morphology||50%|
|Abnormality of the pinna||50%|
|Coarse facial features||50%|
|Intrauterine growth retardation||50%|
|Spina bifida occulta||50%|
|Telangiectasia of the skin||50%|
|Vertebral segmentation defect||50%|
|Abnormality of chromosome segregation||7.5%|
|Abnormality of the pulmonary artery||7.5%|
|Abnormality of the pupil||7.5%|
|Abnormality of the ribs||7.5%|
|Abnormality of the ulna||7.5%|
|Abnormality of the ureter||7.5%|
|Atria septal defect||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Decreased corneal thickness||7.5%|
|Deeply set eye||7.5%|
|Delayed skeletal maturation||7.5%|
|Intellectual disability, mild||7.5%|
|Short distal phalanx of finger||7.5%|
|Autosomal dominant inheritance||-|
|Butterfly vertebral arch||-|
|Coarctation of aorta||-|
|Depressed nasal bridge||-|
|Elevated hepatic transaminases||-|
|Exocrine pancreatic insufficiency||-|
|Failure to thrive||-|
|Hypoplasia of the ulna||-|
|Multiple small medullary renal cysts||-|
|Papillary thyroid carcinoma||-|
|Peripheral pulmonary artery stenosis||-|
|Pigmentary retinal deposits||-|
|Prolonged neonatal jaundice||-|
|Reduced number of intrahepatic bile ducts||-|
|Renal tubular acidosis||-|
|Specific learning disability||-|
|Tetralogy of Fallot||-|
|Upslanted palpebral fissure||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research studies report that 75 percent of children diagnosed with Alagille syndrome live to at least 20 years of age. Because of improvements in liver and heart therapies, this survival rate is increasing. Many adults with Alagille syndrome who improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by liver failure, heart problems, and blood vessel abnormalities.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My husband has Alagille syndrome which affects his liver, kidneys, back and blood pressure. He recently developed joint problems in both knees. Is this related to Alagille syndrome? What is the outlook for people with Allagille syndrome? See answer