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Ebstein anomaly is a rare disease involving the right side of the heart. This disorder occurs when the tricuspid valve, that divides the two chambers of the right side of the heart, does not form correctly. Normally, the tricuspid valve separates the right atria and right ventricle. In Ebstein anomaly, the valve forms too far down in the ventricle. This makes the right ventricle smaller and weaker...

Ectodermal dysplasia (ED) syndromes are a group of genetic disorders characterized by an absence or lack of function of at least two ectoderm body parts, such as the teeth, nails, hair, sweat glands, and parts of the ear and eye. At least 150 different types of ED syndromes have been identified, each diagnosed with a different combination of symptoms. ...

Ehlers-Danlos Syndrome (EDS) is a group of hereditary disorders that mainly affects the skin and joints. Individuals with EDS have a defect in their connective tissue, which provides support to many of their body parts including the skin, muscles, and ligaments. This defect is due to abnormal collagen, a protein which acts as a “glue” in the body to add strength and elasticity to the connective ...

Emery-Dreifuss Syndrome is a rare congenital disorder causing muscle weakness. Children with this disorder lack one of two proteins, either emerin or lamin A/C; without these proteins, muscle cells fail to grow correctly. Joints become stiff, muscles become weak and the heart is usually affected. ...

Endocardial fibroelastosis (EFE) is a condition that produces thickening of the heart muscle in infants resulting in progressive heart failure. The thickening is caused by the deposition of collagen in the heart muscle, possibly due to viral infection, during pregnancy. EFE was first described in 1943. ...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All