Diseases

Frenkel Russe syndrome

Frenkel Russe syndrome (medical condition): A rare disorder characterized by the association of poor immunity with dilated retinal blood vessels.

Frey’s syndrome

Frey's syndrome (also known as Baillarger’s syndrome, Dupuy’s syndrome, Auriculotemporal syndrome or Frey-Baillarger syndrome) is a food related syndrome which can be congenital or not, and can persist for life

Frias syndrome

Frias syndrome: A syndrome characterised by multiple abnormalities

Fried Goldberg Mundel syndrome

Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.

Friedman Goodman syndrome

Friedman goodman syndrome (medical condition): A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.

Friedreich Ataxia

Friedreich's ataxia  is a common form of inherited ataxia. In most cases, symptoms appear before the age of 25. Signs and symptoms of FA include a variety of neurological problems, cardiomyopathy, diabetes and scoliosis. Treatment for people with FA is usually directed at managing symptoms, as there is no cure.

It is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).

Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder between ages 5 and 15. Poor coordination and balance are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.

About 25 percent of people with Friedreich ataxia have an atypical form in which signs and symptoms begin after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.

Froelich’s syndrome

Froelich syndrome (medical condition): A rare syndrome where damage to the hypothalamus impairs the activity of the pituitary gland resulting in obesity, sluggishness and delayed puberty .Froehlich syndrome is a constellation of endocrine abnormalities believed to result from damage to the hypothalamus, a part of the brain where certain functions such as sleep cycles and body temperature are regulated. Froehlich syndrome appears to be acquired while certain other disorders that resemble it, such as Prader-Willi syndrome, are geneti

Frolich’s syndrome

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

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.

Frontometaphyseal dysplasia

Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.

Frontonasal dysplasia

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.

Frontonasal dysplasia acromelic

Acromelic frontonasal dysplasia: A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain.

Frontonasal dysplasia klippel feil syndrome

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.

Frontotemporal dementia

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

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

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

Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.

Fructose intolerance

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-1-6-bisphosphatase deficiency

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- heredita

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.

Fructosemia- hereditary

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

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.