Question: What is (are) Farber's disease ?
Answer: Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.
Source: GARD

Question: What are the symptoms of Farber's disease ?
Answer: What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Hepatomegaly 90% Joint swelling 90% Laryngomalacia 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the skin 50% Abnormality of the voice 50% Kyphosis 50% Nystagmus 50% Recurrent respiratory infections 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Skeletal muscle atrophy 50% Abnormality of the macula 7.5% Cognitive impairment 7.5% Opacification of the corneal stroma 7.5% Pulmonary fibrosis 7.5% Splenomegaly 7.5% Arthritis - Autosomal recessive inheritance - Cherry red spot of the macula - Failure to thrive - Hoarse cry - Intellectual disability - Irritability - Lipogranulomatosis - Motor delay - Periarticular subcutaneous nodules - Progressive - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD