Diseases

Coronaro-cardiac fistula

An abnormal opening between a heart artery and a heart chamber or great vessel. This rare defect is present at birth and often causes no problems or symptoms until adulthood. The severity of the condition is determined by the size and exact location of the defect.

Coronary arteries congenital malformation

Abnormal coronary arteries present at birth. The coronary artery may be misplaced or deformed and the severity of the defect will determine the type and seriousness of symptoms. Some malformations produce no clinical symptoms whereas others are life-threatening without prompt treatment.

Coronary artery aneurysm

Coronary artery aneurysms (CAA), also referred to as ectasias, are typically defined as a dilatation in the diameter of a coronary artery segment to more than 1.5-fold normal size. Coronary artery aneurysm is an uncommon condition that may commonly represent the result of vasculitis, excess active transforming growth factor β (TGF-β) or dysregulation of matrix metal loproteinases. When encountered at autopsy, coronary artery aneurysm may represent the intermediate cause of death because abnormal blood flow within the aneurysm may lead to thrombus format ion, occlusion, embolization, myocardial ischemia, or myocardial infarct ion. Coronary artery aneurysm is a neglected topic in the pathology literature, with contributions limited primarily to reports of single cases.

Coronary artery dissection

A coronary artery dissection (also known as spontaneous coronary artery dissection, or SCAD) is a rare, sometimes fatal traumatic condition, with eighty percent of cases affecting women. The condition may be related to female hormone levels, as it is often seen in post-partum women, or in women during or very near menstruation, but not always. It is not uncommon for SCAD to occur in people in good physical shape and with no known prior history of heart related illness. It is also not uncommon for SCAD to occur in people in their 20's, 30's, and 40's, as well as older.

Early studies of the disease placed mortality rates at around 70%, but more recent evidence suggests a figure of around 20%. The condition is often seen to be related to female hormone levels, as well as other pre-existing cardiovascular conditions. In addition to this, a dissection can occur iatrogenically, by the surgical inserion of a catheter into the coronary artery.

Source: Wikipedia

Corpus callosum agenesis

Agenesis of the Corpus Callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of the brain, fails to develop normally, typically in utero, resulting in disconnected brain hemispheres. The development of the fibers which would otherwise form the corpus callosum become longitudinally orientated within each hemisphere and form structures called Probst Bundles.

Corpus callosum agenesis double urinary collecting

A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder

Corpus callosum agenesis neuronopathy

A rare genetic disorder involving mental retardation, progressive neuropathy and absence of the fibers that connect the two halves of the brain together.

Cortes Lacassie syndrome

A rare syndrome characterized by nail, hair and teeth abnormalities, malformed hands and feet and seizures . The disorder has only been reported in one cause which resulted in death at 31 months.

Cortical defects- wormian bones- and dentinogenesis imperfecta

Osteogenesis imperfecta is one of the most common skeletal dysplasias. It is a generalized disease of connective tissue that may manifest itself with one or more of the following findings: blue sclerae, triangular facies, macrocephaly, hearing loss, defective dentition, barrel chest, scoliosis, limb deformities, fractures, joint laxity, and growth retardation. Additional features, such as constipation and sweating, may also occur. A multidisciplinary approach is required to manage the disease

Corticobasal degeneration

orticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses

Cortisone reductase deficiency

An inborn error of steroid metabolism due to a deficiency of an enzyme called cortisone reductase (11@beta-hydroxysteroid dehydrogenase). This enzyme is needed to convert cortisone to cortisol.

Costello syndrome

Costello syndrome is a genetic disorder that affects many parts of the body. This condition is characterized by delayed development and mental retardation, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but have difficulty feeding and grow more slowly than other children. Later in life, people with this condition have relatively short stature and many lack growth hormone.

Cote Katsantoni syndrome

A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.

Covesdem syndrome

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.

Cowchock syndrome

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.

Cowden syndrome

Cowden syndrome, is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.

Cowden syndrome is associated with mutations in PTEN, a tumor suppressor gene, that cause the PTEN protein not to work properly leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a predisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.

Coxa vara- congenital

A Coxa vara is a deformity of the hip, whereby the angle between the ball and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened, and therefore a limp occurs. It is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, meaning it bends under the weight of the body. This may either be congenital, also known as Mau-Nilsonne Syndrome, or the result of a bone disorder.

Coxoauricular syndrome

A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.