Important
It is possible that the main title of the report Farber's Diseaseis not the name you expected.
General Discussion
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.
Resources
CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk
Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
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: 3/31/2008
Copyright 1988, 1989, 1998, 2005National Organization for Rare Disorders, Inc.
