A rare genetic disorder involving widespread amyloidosis (abnormal buildup of amyloid protein in tissues) which tends the affect the kidneys severely. It is associated with fibrinogen alpha chain, apolipoprotein A1, and lysozyme. It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.
Familial visceral myopathy: A rare condition where the duodenum is dilated and the muscles don't function normally which affects the movement of digestive waste material through the intestines. The symptoms of the condition are similar to that caused by an intestinal obstruction.
Familial Wilms tumor 2: A familial form malignant kidney tumor that occurs in children. Type 2 differs from other forms of Wilms tumor by the origin of the genetic defect (chromosome 19q13.4).
Fanconi anemia (Fanconi anaemia, FA) is a very rare genetic disease with an incidence estimated at 1 per 130,000 births (or around 31 per year in the USA), with a slightly higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa.
FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death was 30 years in 2000.
Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available.
Because of the genetic defect in DNA repair, cells from people with FA are sensitive to drugs that treat cancer by DNA crosslinking, such as mitomycin C.
The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.
Fanconi-Bickel syndrome (FBS) is a rare inherited disorder of carbohydrate metabolism caused by mutations in the gene known as GLUT2. Description Also known as glycogen storage disease type XI, the disease was first described by scientists G. Fanconi and Horst Bickel in 1949. Since then, only a few dozen cases of FBS have been studied, most in the United States, Europe, and Japan. Onset of FBS is within the first year of life, with the overt symptom being a failure to thrive. At age two, an enlarged liver and kidneys are present and the child has rickets. The incidence of FBS has not been determined but it is believed to occur in less than one in one million births. Genetic profile FBS is believed to be an autosomal recessive disorder. This means that an individual with FBS would have to inherit an abnormal copy of the gene from both parents in order to show symptoms of FBS. People with only one abnormal gene are carriers and do not have the disorder. When both parents have the abnormal gene, there is a 25% chance with each birth that their child will inherit both abnormal genes and have the disease. There is a 50% chance each birth that the child will inherit one abnormal gene and become a carrier of the disorder but not have the disease itself. There is a 25% chance each child will inherit neither abnormal gene and not have the disease nor be a carrier. The specific genetic defect of FBS has not been identified. Demographics Since there is so little research on Fanconi-Bickel syndrome, no clear pattern of demographics has been established. However, the disorder is known to affect both males and females. One common thread in some of the cases that have been studied has been consanguinity, meaning that FBS is found in the children of two persons of the same blood relation. In several of these cases the consanguinity is between two first cousins.
Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
Fanconi like syndrome: A rare condition characterized by a poor immune system, skin tumors and a reduced number of all type of blood cells.
Fanconi renotubular syndrome: A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma.
Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
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.
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: A rare parastitic infectious disease caused by liver fluke Fasciola hepatica which can cause blockage of the bile ducts in the liver.
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.
Faulk epstein jones syndrome: Another name for Vertebral fusion- posterior lumbrosacral,
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: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.
A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities.
A very rare skin disease characterized by bleeding skin ulcers and fever. There is no obvious cause of the condition. The skin ulcers spread and can cover most of the body.
A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.
A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
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".
A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
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.
A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
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".
A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
A rare condition characterized by a thigh bone split into two and missing fingers resulting in a lobster-claw shaped hand (ectrodactyly).
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.
A rare syndrome characterized mainly by ataxia, light sensitivity and short stature.