Diseases

Congenital nephrotic syndrome

Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.

Congenital nonhemolytic jaundice

A rare disorder where the liver is unable to remove bilirubin from the body which results in jaundice. Chronically high bilirubin levels can lead to neurological toxicity which manifests as progressive neurological symptoms.

Congenital Plasminogen Deficiency

Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.

Congenital pseudoarthrosis

A very rare birth defect where the middle portion of a bone fails to develop normally so that the two ends of the bone shaft are not joined. This gives the bone the appearance of having a joint. Bones commonly affected include the shin bone, collar bone, forearm bone and upper leg bone - one or more bones may be involved.

Congenital spherocytic anemia

A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells die prematurely which results in anemia. The condition may range from mild to severe.

Congenital spherocytic hemolytic anemia

A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells are broken down prematurely by the body which results in anemia. The condition may range from mild to severe.

Congenital stenosis of cervical medullary canal

A rare birth anomaly where the spinal canal in the upper part of the back is narrower than normal. The narrowing may be inherited or acquired (e.g. trauma). The narrowing of the canal can result in spinal cord compression and associated symptoms.

Congenital Sucrase-Isomaltase Deficiency

Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.

Congenital thrombotic disease- due to Protein C deficiency

A rare blood disorder where deficiency of protein C (anticoagulation agent) results in a predisposition for the formation of blood clots. The severity of the condition is variable. Homozygotes tend to have more severe symptoms while most heterozygotes are asymptomatic. Deficiency of protein C can be an inherited trait or may be acquired through liver disease and after surgery

Congenitally corrected transposition of the great arteries

A rare birth disorder where the right atrium is connected to the left ventricle and vice versa. The position of the heart ventricles is also inverted which allows normal blood oxygenation. Symptoms generally only occur later in life or if other heart defects are present which is usually the case.

Conjunctivitis ligneous

A rare disorder characterized by the formation of thick, tough, woody (ligneous) lesions on mucous membranes

Conjunctivitis with Pseudomembrane

A complication of conjunctivitis where the discharge from the inflammation coagulates and sticks to the conjunctiva to form what is called a pseudomembrane. This pseudomembrane can be removed usually without causing any bleeding.

Conn’s syndrome

A rare metabolic endocrine disorder characterized by excessive secretion of aldosterone resulting in an imbalance of important body chemicals.

Conorenal Syndrome

A rare inherited disorder characterized mainly by kidney failure, abnormal bone development (cone-shaped epiphyses), eye problems and ataxia.

Conotruncal anomaly face syndrome

A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.

Conotruncal heart malformations

A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.

Conradi-Hunermann syndrome

Conradi–Hunermann syndrome ( Conradi–Hunermann–Happle syndrome , Happle syndrome, and X-linked dominant chondrodysplasia punctata ) is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects between one in 100,000 and one in 200,000 babies.

Constrictive bronchiolitis

A lung disease caused by inhalation of v. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.

Continuous spike-wave during slow sleep syndrome

A rare form of epilepsy that occurs between the ages of 3 and 7 and is diagnosed by the observation through an EEG of continuous spike and wave discharges during the slow sleep phase which is detected. The seizures often occur during sleep. Children outgrow the condition before adulthood but some of the effects of the disorder may continue longer.