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Alagille Syndrome
Important
It is possible that the main title of the report Alagille Syndromeis not the name you expected.
Synonyms
- AHD
- Arteriohepatic Dysplasia
- Cholestasis with Peripheral Pulmonary Stenosis
- Syndromatic Hepatic Ductular Hypoplasia
Disorder Subdivisions
- None
General Discussion
Alagille syndrome is a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency.
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Resources
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/
Alagille Syndrome Alliance
10500 SW Starr Drive
Tualatin
OR
97062
USA
Tel: (503)885-0455
Fax: (503)885-0455
alagille@earthlink.net
http://www.alagille.org
Children's Liver Alliance
IN
mail@liverkids.org.au
http://www.liverkids.org.au
American Liver Foundation
75 Maiden Lane
Suite 603
New York
NY
10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
800: (800)465-4837
info@liverfoundation.org
http://www.liverfoundation.org
Digestive Disease National Coalition
507 Capitol Court
Suite 200
Washington
DC
20002
Tel: (202)544-7497
Fax: (202)546-7105
scott@hmcw.org
http://www.ddnc.org
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda
MD
20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
Cholestatic Liver Disease Consortium (CLiC)
c/o Joan Hines, The Children's Hospital
13123 E. 16th Ave.
Suite B290
Aurora
CO
80045
Tel: (720)777-2598
Fax: (720)777-7325
hines.joan@tchden.org
http://www.rarediseasesnetwork.org/clic
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
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: 8/8/2007
Copyright 1987, 1990, 1996, 1998, 1999, 2007 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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