Diseases

Conductive hearing loss

Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane (eardrum), or middle ear (ossicles). This type of hearing loss may occur in conjunction with sensorineural hearing loss (mixed hearing loss) or alone.

Condyloma

Condyloma: A type of wart transmitted through direct sexual contact and is caused by the human papilloma virus.

Condyloma acuminatum

Main name of condition: Condyloma. Other names or spellings for Condyloma: Condyloma acuminatum, genital warts, venereal warts

 

Condyloma: A type of wart transmitted through direct sexual contact and is caused by the human papilloma virus.

Cone dystrophy

Cone dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone cells in the retina of the eye leading to vision loss.

Cone rod dystrophy

Cone rod dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone and rod cells in the retina of the eye leading to vision loss

Cone rod dystrophy amelogenesis imperfecta

Cone rod dystrophy - amelogenesis imperfecta: A rare genetic disorder characterized by degeneration of parts of the eye that absorb light (cone rod dystrophy) as well as teeth abnormalities.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media.

Congenital absence of the sternocleidomastoid muscle

Congenital absence of the sternocleidomastoid muscle: Absent neck muscle - in particular, the muscle that runs from behind the ear and down to the collar bones. These muscles allow the hear to flex and rotate. One or both of the muscles may be absent

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.

Congenital adrenal hyperplasia type 2

Congenital adrenal hyperplasia - simple virilizing form in males: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.

Congenital afibrinogenemia

Congenital Afibrinogenemia: A rare disorder involving the inability to make fibrinogen which is essential for the process of blood clotting.

Congenital alopecia X-linked

Congenital alopecia X-linked: A rare inherited form of reduced or absent of scalp hair from infancy. As it is X-linked it tends to affect males only.

Congenital amputation

Congenital amputation is the absence of a fetal limb or fetal part at birth. This condition may be the result of the constriction of fibrous bands within the membrane that surrounds the developing fetus (amniotic band syndrome) or the exposure to substances known to cause birth defects (teratogenic agents). Other factors, including genetics, may also play a role.

Congenital aneurysms of the great vessels

Congenital aneurysms of the great vessels: A bulge in one of the main blood vessels in the body - pulmonary artery, pulmonary veins, vena cava and aorta. The condition is generally asymptomatic unless the aneurysm becomes very large or bursts which can result in rapid death depending on the location of the aneurysm.

Congenital anosmia

Congenital anosmia: An inherited reduction or total lack of sense of smell

Congenital aplastic anemia

Congenital aplastic anemia: A genetic disorder where the bone marrow does not produce enough blood cells. Fanconi's anemia is an example of congenital aplastic anemia.

Congenital arteriovenous shunt

Congenital arteriovenous shunt: A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved.

Congenital articular rigidity

Congenital articular rigidity: A rare disorder where one or more joints are fixed which affects the ability to move limbs. The joint may be completely fixed or may have some movement.

Congenital bronchobiliary fistula

Congenital bronchobiliary fistula: A rare malformation where there is an abnormal opening between a bile duct and the bronchial (respiratory) system.

Congenital cardiovascular malformations

Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.

Congenital cardiovascular shunt

Congenital cardiovascular shunt: abnormal, tangled collections of dilated blood vessels that result from congenitally malformed vascular structures in which arterial afferents flow directly into venous efferents without the usual resistance of an intervening capillary bed; these disorders exist at, and usually before, birth regardless of their causation.

Congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS, primary alveolar hypoventilation, Ondine's curse). CCHS is a respiratory disorder that is fatal if untreated. People afflicted with CCHS classically suffer from respiratory arrest during sleep.

CCHS is a very rare and serious form of central nervous system failure, involving a failure of autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members found to also have CCHS it may be these figures only reflect those found to require mechanical ventilation. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.

Although rare, cases of long-term untreated CCHS have been reported and are termed late onset CCHS (LO-CCHS). Cases that go undiagnosed until later life and middle age, although the symptoms are usually obvious in retrospect. There have, however, even been cases of LO-CCHS where family members found to have it have been asymptomatic. Again, lack of awareness in the medical community may cause such a delay.

CCHS susceptibility is not known to be affected by gender.

CCHS is congenital. By contrast, Acquired Central Hypoventilation Syndrome (ACHS) or alveolar hypoventilation secondary to neurologic disease, can develop as a result of severe injury or trauma to the brain or brainstem. Where the cause of an Acquired Central Hypoventilation Syndrome is unclear or unknown it is called idiopathic acquired central hypoventilation syndrome.

Congenital chloride diarrhea

Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.

Congenital contractures

Congenital contractures: A muscle condition present from birth where the muscles are abnormally contracted or short. One or more muscles may be involved and the degree of involvement of the individual muscle may vary.