8 members
Eagle Syndrome is a rare condition classified by the elongation of the styloid process or calsification of styloid ligaments.
Eagle Syndrome is extremely rare
2 members
Early Onset Parkinson Disease is the manifestation of Parkinson Disease before the age of 40.
6 members
Early Onset Torsion Dystonia is a rare genetic disorder characterized by painful muscle contractions resulting in uncontrollable distortions.
8 members
Ectrodactyly-ectodermal dysplasia-cleft syndrome is a rare disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefting.
47 members
18 members
Ehlers-Danlos Syndrome Type 4 is a rare autosomal dominant defect in the type-III collagen synthesis.
31 members
There is a collection of rare diseases grouped together as disorders affecting connective tissues known as Ehlers-Danlos syndromes. They are all inherited disorders caused by genetic m...
2 members
Emanuel Syndrome is a rare disorder caused by the translocation of the 11th and 22nd chromosome.
1 members
Emery-Dreifuss is a muscle wasting condition. It usually begins in childhood or adolescence. The features, which make it unique and different from other muscular dystrophies, are the early developm...
4 members
Encephaloceleis a disorder characterized by protrusions of the brain through openings in the skull.
1 members
A group for those who care for individuals with encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome caused by mutations on the gene FBXL4.
1 members
Eosinophilia-myalgia syndrome is a rare neurological condition that is believed to have been caused by ingestion of poorly produced L-tryptophan supplements.
22 members
2 members
Eosinophilic Fasciitis is a rare disorder characterized by peripheral eosinophilia and fasciitis.
9 members
Epidermolysis Bullosa is a rare genetic disorder causing blisters in the skin and mucosal membranes.
1 members
Epidermolytic Hyperkeratosis is a rare skin disorder.
6 members
Episodic Ataxia, Type 2 is a rare genetic disorder characterized by sporadic episodes of severe discoordination caused by mutations in CACNA1A.
1 members
Erb's Palsy is paralysis of the arm caused by injury to the arm's nerves during birth.
4 members
Erdheim Chester Disease is a rare form of non-Langerhans-cell histiocytosis.
2 members
Erythema Elevatum Diutinum is a rare form of vasculitis characterized by red, purple, brown, or yellow papules.
16 members
Erythromelalgia is a rare disorder in which blood vessels are episodically inflamed.
4 members
Erythropoietic Protoporphyria is a mild form of porphyria causing photosensitivity.
1 members
Esophageal atresia is a birth defect which causes the esophagus to end in a pouch rather than connecting normally to the stomach.
2 members
10 members
Essential Thrombocythemia is a rare chronic blood disorder characterized by the overproduction of platelets.
10 members
Essential Tremor is a progressive neurological disorder characterized by shaking of hands and other parts of the body.
2 members
Esthesioneuroblastoma is a rare form of cancer involving nasal cavity which can result in the loss of vision, sight and taste.
8 members
Evans syndrome is a rare autoimmune disorder, meaning that the body’s immune system attacks and damages healthy tissue. In the case of Evans syndrome, blood cells are targeted by the immun...
3 members
Ewing Family of Tumors refers to a group of tumors that have similar genetic causes that lead to tumor development in bones and soft tissues. Ewing Family of Tumors includes four subty...
7 members
Exercise-Induced Anaphylaxis is an allergic reaction is induced by exercise.
19 members
Extramammary Paget Disease (EMPD) is a skin malignancy that affects the outer layer (epidermis) of the skin in areas that are rich in apocrine sweat glands. Apocrine sweat glands are a type of s...