Diseases

Thyroid Eye Disease

Thyroid eye disease (TED) is characterized by progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective and fatty tissue. TED has an active disease phase in which progressive inflammation, swelling and tissue changes occur. This phase is associated with a variety of symptoms including pain, a gritty feeling in the eyes, swelling or abnormal positioning of the eyelids, watery eyes, bulging eyes (proptosis) and double vision (diplopia). The active phase can last anywhere from approximately 6 months to 2 years. This is followed by an inactive phase in which the disease progression has stopped. However, some symptoms such as double vision and bulging eyes can remain. In some people, cosmetic changes and significant disability can develop. Although uncommon, in severe instances, vision loss can occur. Thyroid eye disease is an autoimmune disorder. An autoimmune disorder is one in which the body’s adaptive immune system, which protects the body from infectious or other foreign substances, mistakenly attacks healthy tissue instead. Treatment includes reversing hyperthyroidism, specific medications, supportive measures and in some patients, surgery.

Thyroid eye disease most commonly occurs as part of Graves’ disease, which is an autoimmune disease that affects the thyroid and often the skin and eyes. The thyroid is a butterfly-shaped gland located at the base of the neck. The thyroid is part of the endocrine system, the network of glands that secrete hormones that regulate the chemical processes (metabolism) that influence the body’s activities as well as regulating the heart rate, body temperature and blood pressure. Graves’ disease is characterized by abnormal enlargement of the thyroid (goiter) and increased secretion of thyroid hormone (hyperthyroidism). Less often, thyroid eye disease can occur in people who have or have had an overactive thyroid (hyperthyroidism) or in individuals with an underactive thyroid (hypothyroidism) such as people who have a disorder called Hashimoto thyroiditis.

Although relatively infrequent, TED does not currently fulfill the main criterion for being defined as a rare disease, but several variants of the disease are considered rare diseases

Thyroid hormone plasma membrane transport defect

Thyroid problems caused by a defect in the transport of a thyroid hormone called T4 (thyroxine) within the body. The thyroid produces excessive hormones to try to compensate for that inability of the body to utilize the hormone.

Tibial aplasia ectrodactyly

A rare genetic disorder characterized by split hands and/or feet and absence of long bones of the arms or legs

Tick paralysis

Tick paralysis is the only tick-borne disease that is not caused by an infectious organism. The illness is caused by a neurotoxin produced in the tick's salivary gland. After prolonged attachment, the engorged tick transmits the toxin to its host. The incidence of tick paralysis is unknown.

Tick-borne encephalitis

A viral infection (flavivirdae) of the central nervous system which is transmitted by ticks. Ticks usually feed on small rodents who are the main carriers of the virus. Transmission may also occur through the consumption of untreated milk. The incubation period is usually 1 to 2 weeks. The symptoms occur in two phases: the first involves symptoms of a general viral illness (fever, headache, nausea, aching muscles) followed by a period of remission and then central nervous system inflammation such as meningitis. However, many patients only suffer the first phase of the disease.

Tièche-Jadassohn nevus

A rare genetic disorder characterized by characteristic blue, slightly raised, sharply defined skin growths. The lesions can vary in size.

Tietz syndrome

Tietz syndrome is a condition characterized by deafness and albinism. (Tietz syndrome is not to be confused with Tietze's syndrome, which is a benign inflammation of the cartilages connecting to the sternum or ribs.)

Tietze syndrome

A rare disorder characterized by inflammation, swelling, redness and tenderness of the rib cartilage (costochondrial cartilage) in the upper chest. The condition causes pain and can last from hours to weeks. The cause of the condition is unknown. Also called Tietze's syndrome.

Tiglic acidemia

Tiglic acidemia: Increased blood tiglic acid levels due to a metabolic disorder involving the breakdown of isoleucine to propionic acid.

Timothy syndrome

Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes) and autism spectrum disorders. Timothy syndrome often ends in early death.

Togaviridae disease

Togaviridae disease: Infection with any of a number of togaviridae viruses which can caused conditions such as Equine encephalitis, Ross River virus and Rubella virus. Symptoms are determined by the type of virus involved. Togaviridae are arboviruses and are transmitted by arthropods.

Tollner Horst Manzke syndrome

Tollner Horst Manzke syndrome (medical condition): A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies.

Tolosa-Hunt syndrome

Tolosa-Hunt syndrome (THS) is a rare disorder characterized by severe and unilateral headaches with extraocular palsies, usually involving the third, fourth, fifth, and sixth cranial nerves, and pain around the sides and back of the eye, along with weakness and paralysis (ophthalmoplegia) of certain eye muscles.

Tomaculous neuropathy

Tomaculous neuropathy (medical condition): A rare disorder where the peripheral nerves are more sensitive to pressure than normal which results in recurring periods of numbness, tingling and sometimes loss of muscle function. The condition can affect one or more nerves such as the carpal tunnel nerve. Permanent damage to peripheral nerves can result from recurring episodes. The severity of symptoms are greatly variable from virtually asymptomatic to disability.

Tome Brune Fardeau syndrome

Tome-Brune-Fardeau syndrome: A rare syndrome involving neurological impairment which manifests as movement disorders and dementia.

Tongue neoplasm

Tongue cancer is one type of cancer of the internal oral region;

Toni-Debre-Fanconi syndrome

Toni-Debré-Fanconi syndrome: Another name for Toni-Fanconi syndrome type 1 (or close medical condition association).

Toni-Fanconi syndrome

Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.

TORCH syndrome

TORCH Syndrome: Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of symptoms is determined by the type of infection.

Toriello Lacassie Droste syndrome

Toriello-Lacassie-Droste syndrome (medical condition): A very rare syndrome characterized by increased skin pigmentation, a localized absence of skin (aplasia cutis congenital) and epibulbar dermoids (a benign eye tumor).

Toriello syndrome

Toriello syndrome: A rare syndrome characterized by brachial arch defects and other abnormalities such as short stature, mental retardation and small head.

Toriello-Carey syndrome

Toriello-Carey syndrome (medical condition): A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.