Disease – Page 71 – CheckOrphan

Epiphyseal dysplasia hearing loss dysmorphism

Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.

Epiphyseal dysplasia- multiple- 1

Epiphyseal dysplasia, multiple, 1: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein.

Epiphyseal dysplasia- multiple- 2

Epiphyseal dysplasia, multiple, 2: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the COL9A2 gene.

Epiphyseal dysplasia- multiple- 3

Epiphyseal dysplasia, multiple, 3: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The knees and ankles are usually the most affected joints. Mild weakness of muscles in the upper arms and legs was also sometimes present. It is believed to be caused by a defect in the COL9A3 gene.

Epiphyseal dysplasia- multiple- 4

Epiphyseal dysplasia, multiple, 4: An inherited bone and cartilage disorder which is usually mild enough to go undiagnosed.

Epiphyseal dysplasia- multiple- 5

Epiphyseal dysplasia, multiple, 5: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The hips and knees were the main joints involved. It is caused by defects in the gene for matrilin-3 (MATN3).

Episodic Ataxia syndrome

Episodic ataxia syndrome: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes.

Episodic ataxia with nystagmus

Episodic ataxia, nystagmus-associated (medical condition): A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. Type 2 is caused by a defect in the calcium ion gene on chromosome 19p13.

Epithelial-myoepithelial carcinoma

Epithelial-myoepithelial carcinoma: A rare slow-growing type of cancer that occurs in the salivary duct - usually the parotid gland. The cancer tends to occur in older patients. The cancer tends to reoccur readily and can metastasize.

Epithelioid sarcoma

Rare soft tissue tumor of young adults of unknown histogenesis, predominantly occurring in the distal extremities, with characteristic morphologic features such as epithelioid cytology and a granuloma-like pattern.

Epitheliopathy- acute posterior multifocal placoid

Epitheliopathy, acute posterior multifocal placoid: A rare eye disorder where vision is temporarily impaired with no apparent cause.

Epstein syndrome

A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.

Erdheim disease

Erdheim disease I: A rare condition characterized by the cyst formation and degeneration of the middle layer of the aorta which can ultimately weaken that artery and may result in an aneurysm. A burst aortic aneurysm is a serious possible complication.

Erdheim-Chester syndrome

Erdheim-Chester syndrome: A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable

Ermine phenotype

Ermine phenotype: A very rare syndrome characterized by pigmentation abnormalities as well as deafness.

Eronen Somer Gustafsson syndrome

Eronen-Somer-Gustafsson syndrome (medical condition): A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.

Erosive pustular dermatosis of the scalp

Erosive pustular dermatosis of the scalp is a condition in which tiny pustules form on the scalp, forehead or temples of the elderly. A similar condition may arise on the legs. Erosive pustular dermatosis of the scalp affects severely sun damaged skin usually in areas of scarring such as after injury, skin cancer surgery or shingles.

Erysipelas

Erysipelas: A severe streptococcal bacterial infection where infection spreads from the skin to tissue underneath. The face and extremities are the usual sites affected.

Erythema elevatum diutinum

Erythema elevatum diutinum: A rare chronic skin disorder characterized by skin nodules and plaques near joints and on the back of the hands and feet.

Erythema multiforme

Erythema multiforme: An allergic inflammatory skin disorder which has a variety of causes and results in skin and mucous membrane lesions that affect mainly the hands, forearms, feet, mouth nose and genitals.

Erythema nodosum- familial

Erythema nodosum, familial: A nodular inflammation of the fatty layer under the skin that tends to occur in a familial pattern. The skin nodules are most often located on the shins.

Erythema nodosum- idiopathic

Erythema nodosum, idiopathic: A nodular inflammation of the fatty layer under the skin that occurs for no apparent reason. The condition often resolves itself and is believed to be a hypersensitivity reaction. The skin nodules are most often located on the shins.

Erythermalgia

Erythermalgia: A disorder involving periodic burning, redness and increased temperature in the extremities. Exercise, standing for long periods and heat can trigger an episode.

Erythroblastopenia

Erythroblastopenia: A form of anemia involving the absence of red blood cell precursors which results in a low red blood cell count. The blood abnormality may be congenital or acquired through such things as particular viral infections or drug use. Without treatment, symptoms become progressively worse.

Erythroderma desquamativa of Leiner

Erythroderma desquamativa of Leiner: A rare skin disorder characterized by a reddish, thickened skin rash that spreads to various parts of the body and is usually accompanied by diarrhea, failure to thrive, anemia and recurring local and systemic infections.

Diseases