FG syndrome 2
A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
A rare disorder where some of the material from a vertebral disc enters the blood supply to the spinal cord where it causes an obstruction. Symptoms are determined by where the obstruction occurs. The obstruction causes damage to part of the spinal cord resulting in neurological symptoms which can result in death depending on the size and location of the obstruction.
A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.
Fibrodysplasia ossificans progressiva is an ultra rare disorder and is believed to occur in approximately 1 in 2 million people worldwide, with only several hundred cases having been reported.
Fibrolamellar hepatocellular carcinoma (FHCC) is a rare form of hepatocellular carcinoma (HCC) that typically affects young adults and is characterized, under the microscope, by laminated fibrous layers interspersed between the tumour cells. Approximately 200 new cases are diagnosed worldwide each year.
Fibromatosis (medical condition): A benign soft tissue tumor. The tumors can vary greatly in size and can cause pain. Fibromatosis: (1) A condition characterized by multiple fibromas, with relatively widespread distribution. (2) Abnormal hyperplasia of fibrous tissue.
Gingival fibromatosis presents as a generalized but often irregular enlargement of the facial and lingual aspects of the attached and marginal gingiva (Figure 4a). A portion of one quadrant may be involved, or all four quadrants of the gingival tissues may be involved. Enlargement is painless, slowly progressive and dependent to a great extent on the oral hygiene of the individual. While the hyperplastic tissues are usually firm to palpation, inflammation and edema may make some surface areas (facing the teeth) spongy, erythematous and easily bleeding. It is not unusual for the fibromatosis to completely cover the teeth.
Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
Fibromatosis, gingival 3: A rare genetic disorder characterized by enlarged gum tissue. The severity of the condition is variable. The chromosome involved is 2p23.3-p22.3.
Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic “string of beads” pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.
Fibromyalgia is a common syndrome in which people experience long-term, body-wide pain and tender points in joints, muscles, tendons, and other soft tissues.
Fibromyalgia has also been linked to fatigue, sleep problems, headaches, depression, anxiety, and other symptoms.
Source: Pubmedhealth
Fibrosarcoma (fibroblastic sarcoma) is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells
The lungs are found in the chest, on either side of the heart, beneath the protective rib cage. They are made up of a series of branching tubes (the bronchi) leading all the way down from the main windpipe (trachea) to the system of air sacs (alveoli). This is where the exchange of gases takes place. In the alveoli oxygen is absorbed from the breathed air, through their walls into the bloodstream. Normally the lungs are able to expand and shrink with breathing, enabling air to be drawn in and out. Fibrosing alveolitis (FA) is a condition in which these walls of the lung tissues become thickened. This thickening impairs the ability of the lungs to expand, with the result that less air can be breathed in. This results in less absorption of oxygen into the bloodstream and leads to breathlessness
Fibrous dysplasia is a bone disorder in which scar-like (fibrous) tissue develops in place of normal bone. As the bone grows, the softer, fibrous tissue expands, weakening the bone. Fibrous dysplasia can cause the affected bone to deform and become brittle. Mild cases of fibrous dysplasia usually cause no signs or symptoms. More serious cases may result in bone pain and deformity, which usually develop before age 15.
Fibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous bone tissue. One or more bones can be affected.
Fibula aplasia complex - brachydactyly: A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities.
Fibular aplasia - ectrodactyly: A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet.
Fibular aplasia - ectrodactyly: A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet.
Fibular hypoplasia and complex brachydactyly (medical condition): A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities.
Filaminopathy, autosomal dominant: A rare dominantly inherited muscle disease characterized slow-progressing muscle weakness.
Filariasis (Philariasis) is a parasitic and infectious tropical disease, that is caused by thread-like filarial nematode worms. There are 9 known filarial nematodes which use humans as the definitive host. These are divided into 3 groups according to the niche within the body that they occupy: Lymphatic Filariasis, Subcutaneous Filariasis, and Serous Cavity Filariasis. Lymphatic Filariasis is caused by the worms Wuchereria bancrofti, Brugia malayi, and Brugia timori. These worms occupy the lymphatic system, including the lymph nodes, and in chronic cases these worms lead to the disease Elephantiasis. Subcutaneous Filariasis is caused by Loa loa (the African eye worm), Mansonella streptocerca, Onchocerca volvulus, and Dracunculus medinensis (the guinea worm). These worms occupy the subcutaneous layer of our skin, our fat layer. Serous Cavity Filariasis is caused by the worms Mansonella perstans and Mansonella ozzardi, which occupy the serous cavity of the abdomen. In all cases, the transmitting vectors are either blood sucking insects (fly or mosquito) or Copepod crustaceans in the case of Dracunculus medinensis.
Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
Fingerprints absence - syndactyly - milia: A very rare syndrome characterized mainly by the absence of fingerprints, webbed toes and milia.
Finnish lethal neonatal metabolic syndrome: A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death.
Amyloidosis is a clinical disorder caused by extracellular deposition of insoluble abnormal fibrils that injure tissue. The fibrils are formed by the aggregation of misfolded, normally soluble proteins. In humans, about 23 different unrelated proteins are known to form amyloid fibrils in vivo. All types of amyloid consist of a major fibrillar protein that defines the type of amyloid (approximately 90%) plus various minor components.
Finucane kurtz scott syndrome (medical condition): A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.