Other Names for this Disease
- Alagille-Watson syndrome
- Arteriohepatic dysplasia
- Cardiovertebral syndrome
- Cholestasis with peripheral pulmonary stenosis
- Hepatic ductular hypoplasia
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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 provides the following list of signs and symptoms for Alagille syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Spinner NB, Hitchinson AL, Krantz ID, Kamath BM. Alagille Syndrome. GeneReviews. July 2010; http://www.ncbi.nlm.nih.gov/books/NBK1273/. Accessed 11/1/2012.
- Alagille syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/alagille-syndrome. Accessed 11/1/2012.