Diseases

Edwards syndrome

Edwards' syndrome is caused by an extra copy of chromosome 18. For this reason, it is also called trisomy 18 syndrome. The extra chromosome is lethal for most babies born with this condition. It causes major physical abnormalities and severe mental retardation, and very few children afflicted with this disease survive beyond a year.

EEC syndrome

Ectodactyly, Ectodermal dysplasia, Clefting Syndrome also known as EEC syndrome is a rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.

EEM syndrome

A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.

Egg shaped pupils

Oval-shaped pupils that are large and are not very reactive to light

Ehlers Danlos syndrome – type IV – vascular

Vascular Ehlers-Danlos Syndrome (EDS) is an autosomal dominant defect in the type-III collagen synthesis; now thought to affect approximately 1 in 50,000 to 1 in 200,000. Most are only diagnosed after rupturing, so it is believed that many more may well go undiagnosed. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are fragile and prone to tearing (rupture), with possible life-threatening consequences.

Ehlers-Danlos syndrome – general

Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

It is an inherited disorder estimated to occur in about 1 in 5,000 births worldwide. Ehlers–Danlos affects males and females of all racial and ethnic backgrounds, although some types are more common among certain groups than others. EDS is clinically heterogeneous; the underlying collagen abnormality is different for each type.

Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. Most commonly occurring is the hypermobility type, followed by the classical type. The other types of Ehlers–Danlos syndrome are very rare. Clinical recognition of the types of EDS is important. One type, type IV, is associated with arterial rupture and visceral perforation, with possible life-threatening consequences.

Ehlers-Danlos syndrome 6B

A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.

Ehlers-Danlos syndrome- classic type

A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.

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.