It is a congenital abnormality of unknown aetiology with 3 characteristic features: Deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune Cryptorchism Abnormalities of the urinary tract, usually hydronephrosis and vesico-ureteric reflux There may also be pulmonary hypoplasia.
Fronto nasal malformation cloacal exstrophy (medical condition): A rare disorder characterized by facial abnormalities as well as the abnormal fetal development which results in some of the inner-abdominal structures being exposed outside the abdominal wall.
Fronto-facio-nasal dysplasia: A very rare disorder involving skull and facial abnormalities.
Frontofacionasal dysplasia type Al gazali: A very rare disorder involving various serious facial abnormalities
Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
Frontonasal dysplasia, also called median cleft syndrome, is a rare disorder affecting primarily the face and head. The causes of frontonasal dysplasia are unknown. Most cases appear to occur randomly (sporadically), but it is suspected that some cases are genetically inherited. The term frontonasal dysplasia was first used in 1970 to describe this disorder.
Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.
Frontonasal dysplasia - Klippel Feil syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck (Klippel Feil syndrome) as well as larynx and voice box abnormalities.
Frontonasal dysplasia - phocomelic upper limbs: A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities.
Frontotemporal dementia (frontotemporal lobar degeneration) is an umbrella term for a diverse group of uncommon disorders that primarily affect the frontal and temporal lobes of the brain — the areas generally associated with personality, behavior and language. In frontotemporal dementia, portions of these lobes atrophy, or shrink. Signs and symptoms vary, depending upon the portion of the brain affected. Some people with frontotemporal dementia undergo dramatic changes in their personality and become socially inappropriate, impulsive or emotionally blunted, while others lose the ability to use and understand language. Frontotemporal dementia is often misdiagnosed as a psychiatric problem or as Alzheimer's disease. But frontotemporal dementia tends to occur at a younger age than does Alzheimer's disease, typically between the ages of 40 and 70.
Frontotemporal dementia, ubiquitin-positive: A rare inherited neurodegenerative disorder characterized primarily by progressive social, behavioral and language deterioration due to changes in the frontotemporal portion of the brain.
Froster-Huch syndrome (medical condition): A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs.
Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
Fructose malabsorption or Dietary Fructose Intolerance is a digestive disorder of the small intestine in which the fructose carrier in enterocytes is deficient. As a result of this problem, the concentration of fructose in the entire intestine is increased. Fructose malabsorption is found in approximately 30-40% of the population of Central Europe, with about half of the affected individuals exhibiting symptoms
Fructose bisphosphatase (EC 3.1.3.11) is an enzyme in the liver, that converts fructose-1,6-bisphosphate to fructose 6-phosphate in gluconeogenesis (the making of glucose from smaller substrates). Fructose bisphosphatase does the opposite job as phosphofructokinase, and both these enzymes only work in one direction
Fructose 1 phosphate aldolase deficiency: Another name for Fructosuria (or close medical condition association) A rare harmless asymptomatic condition caused by a lack of the liver enzyme called fructokinase which is needed to turn fructose into glycogen.
Hereditary fructose intolerance (HFI) or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose. It is also known as hereditary fructosemia, or fructose in the blood (-emia means in the blood)
Fructosuria: A rare harmless asymptomatic condition caused by a lack of the liver enzyme called fructokinase which is needed to turn fructose into glycogen. Fructosuria: In hereditary fructose intolerance, a disorder usually seen in children, the body is unable to metabolize the natural sugar fructose.
Frydman cohen karmon syndrome (medical condition): A rare disorder characterized by eye anomalies, webbed fingers and short stature.
Overgrowth syndrome, type Fryer: A rare disorder involving excessive growth resulting in a large birth size and excessive growth following birth. Adults with this disorder also tend to be excessively tall
Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
Fryns-Hofkens-Fabry syndrome: A very rare syndrome characterized underdeveloped forearm bones
Fryns-Smeets-Thiry syndrome: A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities.
Fryns Syndrome: A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes.
Fuchs atrophia gyrata chorioideae et retinae: A very rare disorder involving progressive degeneration of particular eye structures (choroids, pigment epithelium and retina). The condition causes the peripheral and night vision to progressively deteriorate and ultimately blindness occurs.
Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause.
The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include:
Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.[
Fucosidosis is one of seven identified Glycoprotein storage diseases. These inherited diseases are part of a larger group of disorders called Lysosomal storage diseases. Lysosomes are membrane-bound compartments found in the cells of the body. These compartments contain enzymes, which are responsible for the breakdown of many different oligosaccharides (long sugar chains). These sugar chains are continuously made and broken down in our bodies, and this process is necessary for appropriate mental and physical development. Each enzyme in the lysosome is responsible for a certain step in the breakdown of the sugar chains. When an enzyme is not working, it leads to the build up of the sugar chains in the lysosome. In Fucosidosis, the specific enzyme that is absent is called alpha- fucosidase. The build up of oligosaccharide sugars that is caused, is gradual and interferes with the correct function of the cell. It This build up is gradual and eventually leads to the clinical features of Fucosidosis. Features may progress in severity over time.
Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
Fuhrmann syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).