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    Alagille Syndrome

    Important
    It is possible that the main title of the report Alagille Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Alagille-Watson syndrome
    • arteriohepatic dysplasia
    • cholestasis with peripheral pulmonary stenosis
    • syndromic bile duct paucity

    Disorder Subdivisions

    • None

    General Discussion

    Alagille syndrome is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild forms of the disorder while other may have more serious forms. Common symptoms, which often develop during the first three months of life, include blockage of the flow of bile from the liver (cholestasis), yellowing of the skin and mucous membranes (jaundice), poor weight gain and growth, severe itching (pruritis) and pale, loose stools. Additional symptoms include heart murmurs, congenital heart defects, vertebral (back bone) differences, thickening of the ring that normally lines the cornea in the eye (posterior embryotoxon) and distinctive facial features. Most cases of Alagille syndrome occur due to mutations in one copy of the JAG1 gene. A small percentage (less than 1 percent) of cases occur due to mutations of the NOTCH2 gene. These mutations are inherited as autosomal dominant traits, however in about half of cases the mutation arose as a new change ("de novo") in the individual and was not inherited from a parent.

    Resources

    Alagille Syndrome Alliance
    10500 SW Starr Drive
    Tualatin, OR 97062
    USA
    Tel: (503)885-0455
    Fax: (503)885-0455
    Email: alagille@alagille.org
    Internet: http://www.alagille.org

    American Liver Foundation
    39 Broadway, Suite 2700
    New York, NY 10006
    USA
    Fax: (212)483-8179
    Tel: (800)465-4837
    Email: http://www.liverfoundation.org/contact/
    Internet: http://www.liverfoundation.org

    Digestive Disease National Coalition
    507 Capitol Court, NE
    Suite 200
    Washington, DC 20002
    Tel: (202)544-7497
    Fax: (202)546-7105
    Email: ddnc@hmcw.org
    Internet: http://www.ddnc.org

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    Children's Liver Disease Foundation
    36 Great Charles Street
    Birmingham, B3 3JY
    United Kingdom
    Tel: 01212123839
    Fax: 01212124300
    Email: info@childliverdisease.org
    Internet: http://www.childliverdisease.org

    Children's Liver Association for Support Services (C.L.A.S.S.)
    25379 Wayne Mills Place, Suite 143
    Valencia, CA 91355
    USA
    Tel: (661)263-9099
    Fax: (661)263-9099
    Tel: (877)679-8256
    Email: info@classkids.org
    Internet: http://www.classkids.org

    Canadian Liver Foundation
    3100 Steeles Avenue East Suite 801
    Markham Ontario, L3R 8T3
    Canada
    Tel: 4164913353
    Fax: 9057521540
    Tel: 8005635483
    Email: clf@liver.ca
    Internet: http://www.liver.ca

    Congenital Heart Information Network (C.H.I.N.)
    P.O. Box 3397
    Margate City, NJ 08402-0397
    Tel: (609)823-4507
    Fax: (609)822-1574
    Email: mb@tchin.org
    Internet: http://www.tchin.org

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Childhood Liver Disease Research and Education Network
    c/o Joan M. Hines, Research Administrator
    Children's Hospital Colorado
    13123 E 16th Ave. B290
    Aurora, CO 80045
    Tel: (720)777-2598
    Fax: (720)777-7351
    Email: joan.hines@childrenscolorado.org
    Internet: http://www.childrennetwork.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 2/7/2013
    Copyright 1987, 1990, 1996, 1998, 1999, 2007, 2010, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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