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Stickler Syndrome is a hereditary disorder of the connective tissues that can affect the eye, bones and joints, inner ear, and the bones of the skull and face. Connective tissue is found all throughout the body and supports organs, allows stretching and tightening of muscles, and is an important part of our joints. Collagen is an important part of connective tissue. In the eye collagen is found...

The Sturge-Weber syndrome is a nerve and skin disorder with non-cancerous growths composed of blood vessels (called angiomas) that involve the skin of the face, the eye, and the membranes covering the brain and spinal cord. As a result, most people have a birthmark called a port-wine stain over the skin around one eye, glaucoma (increased pressure in the eye) and possibly seizures. Children may...

Subacute sclerosing panencephalitis (SSPE) is a progressive disease of the brain caused by an unusual response to the measles virus. Following a measles infection, the virus may rarely persist within the brain in an inactive state. The virus may then reactivate several years later to cause SSPE, a swelling of the brain with associated mental and physical deterioration. ...

Sulfite Oxidase Deficiency is an inherited metabolic disease that results from a deficiency of sulfite oxidase, an enzyme necessary for the metabolism (breakdown) of sulfur-containing proteins in our body. Children with this disease accumulate sulfites in their body and often have problems with their eyes, abnormal movements, muscles problems, and severe neurologic deficits. ...

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is a reactive inflammatory disorder that includes fever, an increase in the body’s white blood cells and tender, reddish to purple skin lesions that can occur on the head, neck or trunk. ...

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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