Farber disease (also known as Farber’s lipogranulomatosis or ceramidase deficiency) describes a group of rare autosomal recessive disorders that cause an accumulation of fatty material in the joints, tissues and central nervous system. The disorder affects both males and females. Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber’s disease develop neurological symptoms within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthemas which thicken around joints as the disease progresses. Patients with breathing difficulty may require insertion of a breathing tube. Most children with the disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The International Classification of Diseases for Oncology (ICD-O) is a domain specific extension of the International Statistical Classification of Diseases and Related Health Problems for tumor diseases. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... A joint is a nicely rolled marijuana cigarette. ... A diagram showing the CNS: 1. ... The liver is one of the largest internal organs of the human body. ... The heart and lungs (from an older edition of Grays Anatomy) The heart (Latin cor) is a hollow, muscular organ in vertebrates that pumps blood through the blood vessels by repeated, rhythmic contractions, or a similar structure in annelids, mollusks, and arthropods. ... Human kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... Vomiting (or emesis) is the forceful expulsion of the contents of ones stomach through the mouth. ... Arthritis (from Greek arthro-, joint + -itis, inflammation) is a group of conditions that affect the health of the bone joints in the body. ... Structure of the lymph node. ... Dysphonia is the medical term for hoarseness or other phonation disorders. ...

There is no specific treatment for Farber’s disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed. In physiology, corticosteroids are a class of steroid hormones that are produced in the adrenal cortex. ... Bone marrow transplantation (BMT) or hematopoietic stem cell transplantation (HSCT) is a medical procedure in the field of hematology and oncology that involves transplantation of hematopoietic stem cells (HSC). ... In medicine (anatomical pathology), a granuloma is a group of epithelioid macrophages surrounded by a lymphocyte cuff. ...

External links

• OMIM 228000