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National Organization for Rare Disorders, Inc.
- Acid Ceramidase Deficiency
- Farber's Lipogranulomatosis
Farber's disease is a rare inherited metabolic disorder. It is one of the diseases known as lysosomal storage diseases. These are inherited errors of metabolism that happen as the result of the lack or malfunction of a particular enzyme needed to break down complex chemical compounds in the structures within cells known as lysosomes. In this case, the enzyme that is missing is acid ceramidase. The deficiency of this enzyme leads to the accumulation of a substance known as ceramide and is associated with characteristic symptoms and progressive tissue damage, particularly in the joints, liver, lung, and nervous system.
Farber's disease is usually recognized by the presence of three symptoms: painful and progressively deformed joints, nodules under the skin, and progressive hoarseness. Other organ systems may also be involved. Farber's disease is inherited as an autosomal recessive genetic trait.
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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 firstname.lastname@example.org
Last Updated: 3/31/2008
Copyright 1988, 1989, 1998, 2005 National Organization for Rare Disorders, Inc.