Benign recurrent intrahepatic cholestasis (BRIC) a rare form of hereditary cholestasis syndrome characterized by repeated self limited episodes of pruritus and jaundice. It recurs but occasionally leads to progressive liver disease. Treatment is symptomatic
A rare liver disorder characterized by intermittent episodes of cholestasis (impaired bile flow within the liver) that doesn't involve obstruction of bile ducts outside the liver. The jaundice tends to disappear in weeks or months without treatment and the condition does not lead to liver failure. Type 2 is caused by a defect on the ABCB11 gene on chromosome 2q24
A very rare syndrome characterized by liver and kidney problems.
The demonstration of a defect of cholesterol esterification in a mutant strain of BALB/c mice with an attendant reduction of sphingomyelinase activity prompted us to examine the capacity of cultured human Niemann-Pick fibroblasts to esterify exogenously derived cholesterol. Cholesterol was supplied to cell cultures in the form of native or chemically modified, positively charged low density lipoprotein or as non-lipoprotein cholesterol.
cholesterol a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes. Most is synthesized by the liver and other tissues, but some is absorbed from dietary sources, with each kind transported in the plasma by specific lipoproteins. It can accumulate or deposit abnormally, as in some gallstones and in atheromas. Preparations are used as emulsfiers in pharmaceuticals.
Also known as Late Onset Lysosomal Acid Lipase (LAL) Deficiency, CESD is an inherited disease that affects children (usually greater than 2 years old), adolescents and adults. In this disease, the body is missing an enzyme that breaks down fats (also known as lipids). As a result, these fats build up throughout the body mostly in the liver, spleen and blood vessels. This build up can cause an enlarged liver, leading to liver failure, as well as an increased risk for heart attack and stroke. The missing enzyme is known as lysosomal acid lipase (LAL). For the rest of this entry, we will refer to the condition as LAL Deficiency, specifically its Late Onset form.
Chondroblastoma is a rare, benign, locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones. It is thought to arise from an outgrowth of immature cartilage cells (chondroblasts) from secondary ossification centers, originating from the epiphyseal plate or some remnant of it.
Chondroblastoma is very uncommon, accounting for only 1-2% of all bone tumors. It affects mostly children and young adults with most patients being in the second decade of life, or less than 20 years of age. Chondroblastoma shows a predilection towards the male sex, with a ratio of male to female patients of 2:1. The most commonly affected site is the femur, followed by the humerus and tibia. Less commonly affected sites include the talus and calcaneus of the foot and flat bones
A very rare genetic disorder characterized by progressive osteoarthritis which starts relatively early and is progressive. Joint damage is caused by deposits of crystals containing calcium.
A very rare genetic disorder characterized by progressive osteoarthritis. Joint damage is caused by deposits of crystals containing calcium.
A rare inherited disorder involving calcium pyrophosphate deposits in cartilage, joint fluid and tissues around joints.
Chondrodysplasia is a genetic deformation disorder which can result in crippling deformities. Often mislabeled as "dwarfism", this condition is actually presented as abnormally short and deformed limbs. In some dog breeds, such as dachshund and basset hound; these leg formations are "normal", and is controlled within the breed and an identical degree of impact.
Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well-documented cases of this apparently autosomal recessive disorder and discuss the differential diagnosis.
A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton.
* A rare lethal congenital condition characterized by abnormal bone development.
A rare genetic disorder characterized by dwarfism and various limb deformities.
Chondrodystrophy (literally, "cartilage bad-nourishment") refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. It is a very general term, and is usually only used in the medical literature when a more precise description of the condition is not available.
Chondroectodermal dysplasia is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.
A chondroma is a benign cartilaginous tumor, which is encapsulated with a lobular growing pattern. Tumor cells (chondrocytes, cartilaginous cells) resemble normal cells and produce the cartilaginous matrix (amorphous, basophilic material). Characteristic features of this tumor include the vascular axes within the tumor, which make the distinction with normal hyaline cartilage.
Chondromalacia patellae (also known as CMP, Patello-femoral Pain Syndrome, or Runner's Knee) is a term for a large and disparate group of medical conditions that can cause pain in the front of the knee. It is common in young adults, especially soccer players, cyclists, rowers, tennis players, ballet dancers, horseback riders, volleyball players, and runners.
Benign cartilage growths that can occur in various parts of the body. Symptoms are determined by the size and exact location of the growth. For example, a spinal chondroma can result in compression of the spinal cord
A chondrosarcoma is a type of cancer of the bone. Chondrosarcoma is a cartilage-based tumor and is in a category of cancers called sarcomas. About 25% of primary bone cancers (meaning those which start in the bone) are chondrosarcomas. This disease can affect people or animals of any age, although it is more common among older people than among children.
Chordoma is a rare slow-growing malignant neoplasm thought to arise from cellular remnants of the notochord. The evidence for this is the location of the tumors (along the neuraxis), the similar immunohistochemical staining patterns, and the demonstration that notochordal cells are preferentially left behind in the clivus and sacrococcygeal regions when the remainder of the notochord regresses during fetal life.
Choreiform movements are abrupt, irregular, and purposeless. They are quite brief, asymmetric, present at rest, and may persist during sleep. The term chorea is derived from the Greek word for dancing and was applied initially to epidemics of dancing mania in the Middle Ages, in which large numbers of people danced together for days.
Sydenham's chorea is an acute but self-limited movement disorder that occurs most commonly in children between the ages of 5 and 15, and occasionally in pregnant women. It is closely associated with rheumatic fever following a throat infection. The disorder is named for Thomas Sydenham (1624-1689), an English doctor who first described it in 1686. Other names for Sydenham's chorea include simple chorea, chorea minor, acute chorea, rheumatic chorea, juvenile chorea, and St. Vitus' dance.
Inflammation of the choroids and retina of the eye. It can be caused by various pathogens such as bacteria, viruses, fungus or protozoa. Other noninfectious diseases such as sarcoidosis can cause abnormal deposits in the eye which can also result in inflammation.
Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade. We have identified a Northern Irish family with 19 affected individuals in three living generations.
An inherited eye disorder.
Choroideremia (CHD) is a rare X-linked recessive inherited disorder giving rise to retinal disease and eventual blindness, resulting from degeneration of the choriocapillaris of the choroid and of the retinal pigment epithelium of the retina. The disease results in progressive loss of vision, almost exclusively in males; in childhood, night blindness is the most common first symptom.[not verified in body] As the disease progresses, vision loss results, frequently starting as an irregular ring that gradually expands both in toward central vision and out toward the extreme periphery; progression continues throughout the individual's life, where both the rate of change and the degree of visual loss are variable among those affected, even within the same family.
A rare inherited disorder characterized by eye disease and hypopituitarism.