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NINDS Farber's Disease Information Page

Synonym(s):  Ceramidase Deficiency

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What is Farber's Disease?

Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.  The liver, heart, and kidneys may also be affected.  Disease onset is typically seen in early infancy but may occur later in life.  Symptoms of the classic form  may have moderately impaired mental ability and difficulty with swallowing.  Other symptoms may include chronic shortening of muscles or tendons around joints,arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting.  Affected persons may require the insertion of a breathing tube.  In severe cases, the liver and spleen are enlarged.  Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin.  Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene.  The disorder affects both males and females.

Is there any treatment?

Currently there is no specific treatment for Farber’s disease.  Corticosteroids may help relieve pain.  Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications, or may be surgically removed in older individuals.

What is the prognosis?

Most children with the classic form of Farber’s disease die by age 2, usually from lung disease.  Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), conducts research about lipid storage diseases such as Farber’s disease and also supports additional research through grants to major medical institutions across the country.  NINDS scientists are studying the mechanisms by which the lipids accumulating in these storage diseases can harm the body.  Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) in the hopes to developing novel therapeutics for these disorders.

The National Library of Medicine (NLM), a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed.  Go to:  The NLM also offers extensive health information from NIH and other trusted sources.  Go to:

NIH Patient Recruitment for Farber's Disease Clinical Trials

Related NINDS Publications and Information

Prepared by:
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National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last Modified September 2, 2015