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
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.
A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems
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
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.
enign cartilage growths that develop inside bones.
A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
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 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
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).
disorder in the function of an endocrine gland and the consequences thereof
A tumor that develops in the endolymph sacs which are structures inside the ear. These tumors occur predominantly in patients suffering from Von Hippel Landau disease. The tumors don't metastasize.
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.
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
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.
The hypereosinophilic syndrome (HS) is a disease process characterized by a persistently elevated eosinophil count (≥ 1500 eosinophils/mm³) in the blood for at least six months without any recognizable cause after a careful workup, with evidence of involvement of either the heart, nervous system, or bone marrow
A rare syndrome characterized by short stature and episodes of locked finger joints.
A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities
An ear disorder involving progressive hearing loss that starts during childhood. The disorder is caused by abnormal fluid movement within the ear structures due to the large size of some of the structures that hold the fluid. The fluid canal actually doesn't fully mature until the child reaches the age of about 4. Head trauma can make the condition worse in young children.
Enolase Deficiency is a rare genetic disorder of glucose metabolism. Partial deficiencies have been observed in several caucasian families. The deficiency is transmitted through an autosomal dominant inheritance pattern. The gene for Enolase 1 has been localized to Chromosome 1 in humans.
A rare disorder involving a deficiency of beta-enolase enzyme which caused muscle pain and exercise intolerance. Beta-enolase is a muscle specific enzyme.
Enterobiasis, or pinworm infection as it is commonly called, is an intestinal infection caused by the parasitic roundworm called Enterobius vermicularis. The most common symptom of this irritating, but not particularly dangerous, disease is itching around the anal area.
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea.
Enteropathy-Associated T-cell Lymphoma (EATL) is a T-cell lymphoma of the small intestine. It is the most common primary gastrointestinal T-cell lymphoma, arising from the T cells that are found between the cells that line the small intestinal (brush border cells or small intestinal epithelial cells). These cancerous T-cells are a consequence of prolonged, untreated coeliac disease in genetically susceptible individuals.
Fetal infection with enterovirus. The condition is extremely rare but infection around the time of birth often results in death or paralysis in survivors. The type and severity of symptoms is determined by the exact type of virus involved and at what stage of development the infection occurs.
Posionous bite by a snake called the Lancehead Viper. It is a very venomous pit viper found in Martinique. Death is not common as the bite usually only causes a localized reaction rather than a systemic one. 10-20% of untreated cases result in death.