Diseases

Farber’s disease

Farber's disease is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. The deficiency of an enzyme is called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.

Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay.

Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features:

Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood.

Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood.

Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood.

Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.

Farmer’s lung

Alternative Names: Extrinsic allergic alveolitis; Farmer's lung; Mushroom picker's disease; Humidifier or air-conditioner lung; Bird breeder's lung Hypersensitivity pneumonitis is inflammation of the lungs due to breathing in a foreign substance, usually certain types of dust, fungus, or molds.

Fascioliasis

Fascioliasis: A rare parastitic infectious disease caused by liver fluke Fasciola hepatica which can cause blockage of the bile ducts in the liver.

Fatal familial insomnia

A rare brain disease where the patient loses the ability to fall asleep. Prognosis is poor and the inability to sleep is gradually degenerative and eventually fatal.

Faye-Petersen Ward Carey syndrome

Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.

Fazio Londe syndrome

Fazio-Londe syndrome: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.

Fealty syndrome

A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities.

Fechtner syndrome

A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.

Feigenbaum Bergeron syndrome

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Feigenbaum bergeron syndrome as a "rare disease".

Feingold Trainer syndrome

A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.

Felty’s Syndrome

Felty's syndrome is a complication of long-standing rheumatoid arthritis. Felty's syndrome is defined by the presence of three conditions: rheumatoid arthritis, an enlarged spleen (splenomegaly), and an abnormally low white blood count. Felty's syndrome is uncommon. It affects less than 1% of patients with rheumatoid arthritis.

Female pseudohermaphrodism Genuardi type

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Female pseudohermaphrodism genuardi type as a "rare disease".

Femoral facial syndrome

A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.

Femur fibula ulna syndrome

A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more than the left side.

Fetal acitretin syndrome

Fetal exposure to Acitretin (Soriatane, NeoTigason) can result in malformations. Acitretin is a retoind drug often used to treat psoriasis .

Fetal alcohol syndrome

Fetal alcohol syndrome is growth, mental, and physical problems that may occur in a baby when a mother drinks alcohol during pregnancy.A pattern of mental and physical birth defects caused by excessive alcohol use during pregnancy. The range and severity of the symptoms may vary greatly.

Fetal aminopterin syndrome

A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.

Fetal and neonatal alloimmune thrombocytopenia

Neonatal Alloimmune Thrombocytopenia (NAIT) is a blood-related disease that affects expectant mothers and their babies.

Most people are familiar with the red blood cells that make up the majority of the blood in our bodies, but may not be aware of a second type of cell in our blood stream called platelets. These small cells are responsible for stopping bleeding in the human body.

Neonatal Alloimmune Thrombocytopenia is a disease that develops when platelets in the pregnant mother and her baby become incompatible and cannot exist together.

Fetal anticonvulsant syndrome

Maternal use of anticonvulsants may increase the risk of the fetus developing birth defects. There is insufficient evidence to definitely conclude that maternal use of anticonvulsants is harmful to the fetus.