Coarctation of aorta dominant: A rare inherited birth defect where the heart blood vessel called the aorta has a narrowed area which affects blood flow. The degree of constriction is variable which mild cases asymptomatic until adulthood. The poor blood flow to the lower body gives results in it appearing less developed than that upper body.
Coarse face - hypotonia - constipation: A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation.
Coats’ disease, (sometimes spelled Coates' disease), is a very rare eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina.
Phenobarbital antenatal infection: Fetal exposure to a drug called Phenobarbital which can be used as an anticonvulsant, sedative or hypnotic drug. The range of symptoms depends on the dosage and duration of the drug taking during pregnancy.
Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
Coccidioidomycosis, commonly known as cocci, "valley fever", or "California fever", is a mammalian fungal disease caused by Coccidioides immitis or Coccidioides posadasii. It is endemic in certain parts of Arizona, California, Nevada, New Mexico, Texas, Utah, and northern Mexico.
C. immitis is a dimorphic saprophytic fungus that grows as a mycelium in the soil and produces a spherule form in the host organism. It resides in the soil in certain parts of the southwestern United States, most notably in California and Arizona. It is also commonly found in northern Mexico, and parts of Central and South America. C. immitis is dormant during long dry spells, then develops as a mold with long filaments that break off into airborne spores when it rains. The spores, known as arthroconidia, are swept into the air by disruption of the soil, such as during construction, farming, or an earthquake.
Coccidioidomycosis is a common cause of community acquired pneumonia in the endemic areas of the United States. Infections usually occur due to inhalation of the arthroconidial spores after soil disruption. The disease is not contagious. In some cases the infection may recur or be permanent.
The coccyx, or tailbone, is the last bone of the vertebral column, and usually consists of three to five fused vertebrae that connect with the sacrum, a part of the pelvis. Pain in or around the coccyx is called coccygodynia, or tailbone pain. The pain usually radiates to the lower sacral and perineal areas of the body. Frequently affecting women more than men, the condition has both acute and chronic forms. Some believe that the syndrome has a significant psychological basis.
Cochleosaccular degeneration of the inner ear and progressive cataracts: A very rare syndrome characterized by cataracts and progressive damage of certain inner ear structures (cochlea and saccule) which results in progressive deafness and vision problems.
Cockayne syndrome (CS ,Neill-Dingwall syndrome), is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological white matter. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood.
It is named after English physician Edward Alfred Cockayne (1880–1956) who first described it in 1936 and re-described in 1946. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. These women described the case of two brothers with Cockayne syndrome and asserted it was the same disease described by Cockayne. In their article the women contributed to the symptoms of the disease through their discovery of calcifications in the brain. They also compared Cockayne syndrome to what is now known as Hutchinson-Gilford progeria syndrome (HGPS), then called progeria, due to the advanced aging that characterizes both disorders.
Multiple abnormalities involving the eyes, nose, ears, and teeth in association with epiphyseal ossification disorders, vertebral defects, neurosensory hearing loss, short stature, and mental deficiency; All thus far reported cases have been sporadic-----[
Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
Coenzyme Q10 (Ubiquinone or CoQ10) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of Coenzyme Q10 has been associated with many different clinical presentations, including diverse muscle and brain related dysfunctions as well as lactic acidosis. Coenzyme Q10 deficiency can be tested via a muscle biopsy, where the actual concentration of the enzyme in the muscle tissue is determined. Coenzyme Q10 deficiency can be treated with oral Coenzyme Q10 supplementation.
Source:
Neurochem Res (2007) 32:723-72; Neuromuscul Disord 2012 Jan;22(1):76-86
Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
Coffin-lowry syndrome was characterised by Coffin (1966) and Lowry (1971). Coffin-Lowry syndrome was independently described by Dr. Coffin and his associates in 1966 and later described by Dr. Lowry and associates in 1971. Dr. Temtamy showed that the cases represented a single syndrome in 1975
Coffin-Siris Sydrome is a rare genetic disorder which causes mental retardation and absent fifth finger and toe nails. Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.
Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement.
A very rare eye disorder where various eye anomalies may impair vision. Cogan-Reese Syndrome is an extremely rare, auto-immune syndrome, affecting vision and hearing. The vision component of this eye disorder is characterized by a matted or smudged appearance to the surface of the iris and development of small colored lumps on the iris. It is also characterized by the attachment of portions of the iris to the cornea and/or increased pressure in the eye (glaucoma). Secondary glaucoma caused by Cogan-Reese Syndrome may lead to vision loss. This disorder, which develops slowly over time, most frequently appears in young and middle-aged females and usually affects only one eye.
Cogan’s syndrome is a rare autoimmune-mediated rheumatic disorder of interstitial keratitis (inflammation of the cornea) that develops in children and young adults shortly after their recovery from an otherwise unremarkable respiratory infection. First reported in 1945, Cogan’s syndrome causes symptoms that are similar to those of syphilic keratitis although there is no evidence of syphilis infection in Cogan’s syndrome.
Cohen-Hayden syndrome: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
Cohen lockood wyborney syndrome (medical condition): A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is believed to be a gene mutation at locus 8q22 gene COH1.[1] Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression
Cold agglutination syndrome: A rare disorder where abnormal blood proteins called cold agglutinins cause red blood cells to form clumps and die. The process is triggered by exposure to cold temperatures. A small number of cold agglutinins is normal but larger numbers can cause problems such as anemia.
Cold Agglutinin Disease, a rare blood disorder, is a type of Autoimmune Hemolytic Anemia. Cold agglutinin antibodies are made in your bone marrow and high levels can occur when your immune system malfunctions. The body mistakenly perceives, as foreign, the very antibodies that it produces and sets up an autoimmune response thereby prematurely killing the red blood cells (hemolysis). The antibodies called cold agglutinins, are activated by cold temperatures and react by causing a sticking together or clumping of the red blood cells to which they are attached. The temperature, at which the agglutination (clumping) takes place, varies from patient to patient. A thermal study may be done to determine the level.
Cold urticaria (essentially meaning "cold hives") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus. The welts are usually itchy and often the hands and feet will become itchy and swollen as well. Hives vary in size from about 7mm in diameter to as big as about 27mm diameter or larger. The disease is classified as chronic when hives appear for longer than 6 weeks; they can last for life, though their course is often unpredictable. This disorder, or perhaps two disorders with the same clinical manifestations, can be inherited (familial cold urticaria) or acquired[2] (primary acquired cold urticaria). The acquired form is most likely to occur between ages 18–25, although it can occur as early as 5 years old in some cases.
Cole carpenter syndrome (medical condition): A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
Chromosome 1 is the designation for the largest human chromosome. People normally have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 247 million nucleotide base pairs, which are the basic units of information for DNA.[1] It represents about 8% of the total DNA in human cells.
Collagenous colitis is an inflammatory colonic disease with peak incidence in the 5th decade of life, affecting women more than men. Its clinical presentation involves watery diarrhea, usually in the absence of rectal bleeding. It is often classified under the umbrella entity microscopic colitis, along with a related condition, lymphocytic colitis
Collecting duct carcinoma of the kidney is a rare variant of renal cell carcinoma. Hematuria is the most common presenting symptom. This tubulopapillary tumor arises from or differentiates forward to medullary collecting tubules. It is typically centered on the medulla of the kidney and extends into the cortex with a desmoplastic reaction. There are few reports documenting the clinical presentation and long-term prognosis. We describe a case of this uncommon tumor with clinical, histological and immunohistochemical features and review the literature.
Collins-Pope syndrome: A very rare syndrome characterized by a dislocated hip, increased finger flexibility and facial anomalies.