Diseases

Ehlers-Danlos syndrome- type VII- autosomal dominant

Type VI EDS (the ocular-scoliotic form of EDS) is characterized by a fragile globe of the eyes, significant skin and joint laxity, and severe curvature of the spine (scoliosis). It is inherited as an autosomal (non-sex-linked) recessive genetic trait. Recessive means that two copies of the gene are required to produce the disease.

Ehrlichiosis

Ehrlichiosis is a bacterial infection that infects and kills white blood cells. These obligately intracellular bacteria are members of the family Anaplasmataceae, genera Ehrlichia and Anaplasma.

Eisenmenger syndrome

Eisenmenger's syndrome (or Eisenmenger's reaction) is defined as the process in which a left-to-right shunt caused by a ventricular septal defect in the heart causes increased flow through the pulmonary vasculature, causing pulmonary hypertension, which in turn, causes increased pressures in the right side of the heart and reversal of the shunt into a right-to-left shunt.

Elastosis perforans serpiginosa

Elastosis perforans serpiginosa is a rare skin disorder in which abnormal elastic tissue fiber passes from the inner layer of skin to the outer layer of skin. The inner layer of the skin is called the papillary dermis. The outer layer of the skin is called the epidermis. When a person has elastosis perforans serpiginosa, the outer layer of the skin perceives abnormal elastic tissue to be a foreign object. When the elastic tissue is perceived as abnormal object, inflammation occurs.

Elective mutism

Elective mutism is the former name for selective mutism. Elective mutism was defined as a refusal to speak in almost all social situations (despite normal ability to do so), while selective mutism is considered to be a failure to speak in specific situations and is strongly associated with social anxiety disorder. In contrast to selective mutism, someone who is electively mute may not speak in any situation, as is usually shown in books and movies. Elective mutism is often attributed to defiance or the effect of trauma.

Emery-Dreifuss muscular dystrophy- X-linked

A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms

Emphysema- congenital lobar

Congenital lobar emphysema, also called infantile lobar emphysema, is a respiratory disease that occurs in infants when air enters the lungs but cannot leave easily. The lungs become over-inflated, causing respiratory function to decrease and air to leak out into the space around the lungs.

Empty sella syndrome

Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is a condition that is often discovered during tests for pituitary disorders, when radiological imaging of the pituitary gland reveals a sella turica that appears to be empty.

Enamel hypoplasia cataract hydrocephaly

(medical condition): A rare inherited disorder characterized by abnormal tooth enamel, cataracts and a brain abnormality. The brain abnormality involves a narrowed duct (aqueduct of Sylvius) which connects the third and fourth ventricle and allows brain and spinal fluid to pass through.

Encephalitis lethargica

A rare brain disease characterized by fever, headache, lethargy and reduced physical and mental responses. The disease occurred as an epidemic in the 1920's but now occurs sporadically - the exact cause is still not known.

Encephalocele

Encephalocele ( sometimes known by the Latin name cranium bifidum), is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location.

Encephalocele anencephaly

Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy resulting in the absence of a major portion of the brain, skull, and scalp. Children with this disorder are born without a forebrain, the largest part of the brain consisting mainly of the cerebral hemispheres (which include the isocortex, which is responsible for higher level cognition, i.e., thinking). The remaining brain tissue is often exposed—not covered by bone or skin.

Encephalocraniocutaneous lipomatosis

ECCL is a rare, sporadic, neurocutaneous syndrome with no predominant gender, racial, or geographical association. The genetic mechanism has been hypothesized to involve lethal autosomal dominant genes that survive by mosaicism, and the pathogenesis is most likely a dysgenesis of the cephalic neural crest and anterior neural tube

Encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages myelin – the protective covering of nerve fibers. It often follows viral infection, or less often, vaccination for measles, mumps, or rubella.

Encephalopathy- ethylmalonic

Ethylmalonic encephalopathy is a rare autosomal recessive genetic disorder defined as an inborn error of metabolism. It affects several body systems, including the gastrointestinal system, circulatory system, and particularly the nervous system

Encephalopathy-basal ganglia-calcification

Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.

Endocardial fibroelastosis

EFE refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. The disease can be primary or secondary to various congenital heart diseases, most notably hypoplastic left heart syndrome, aortic stenosis, or atresia. The 2 pathologic forms of primary EFE include dilated, which is most common, and contracted. Primary EFE is not associated with any significant structural anomaly of the heart. Secondary EFE is associated with other congenital heart diseases. Once regarded as a common cause of unexplained heart failure, EFE is now considered rare.

Endocarditis

Endocarditis is an inflammation of the inner layer of the heart, the endocardium. It usually involves the heart valves (native or prosthetic valves). Other structures which may be involved include the interventricular septum, the chordae tendinae, the mural endocardium, or even on intracardiac devices. Endocarditis is characterized by a prototypic lesion, the vegetation, which is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. In the subacute form of infective endocarditis, the vegegation may also include a center of granulomatous tissue, which may fibrose or calcify

Endocarditis- infective

Infective endocarditis is an infection of the lining of the heart's chambers (called the endocardium) or the heart's valves. If left untreated, endocarditis can cause other complications, such as a blood clot (embolism), an irregular heartbeat (arrhythmia), valve damage or destruction, and, in time, congestive heart failure (CHF).

Endocrinopathy

disorder in the function of an endocrine gland and the consequences thereof

Endometrial cancer

Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause.

Endometrial stromal sarcoma

A rare type of cancer that develops from the endometrial layer of the uterus. The cancer may be slow-growing or aggressive and may metastasize

Endomyocardial fibroelastosis

A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.