Eponymous diseases

Can you name the diseases named for their discoverer or a notable patient?

Clinical nameEponymSymptoms/other details
Retinocerebellar angiomatosisGenetic disorder associated with renal angioma, renal cell carcinoma, and pheochromocytoma. Diagnosis usually occurs through symptoms of one of those conditions.
Overwhelmingly known simply by eponymGenetic neurodevelopmental disorder caused by the deletion of 26 genes from chromosome 7. Characterized in its patients by a distinct elfin appearance, unusual friendliness toward strangers, mild mental retardation, and perfect pitch.
Overwhelmingly known simply by eponymNeurodegenerative disorder characterized by trembling in the hands and body, and by difficulty in speaking.
Overwhelmingly known simply by eponymTerminal degenerative disorder, and the commonest form of dementia. Common symptoms include memory loss, confusion, and lack of cognition.
Amnesic-confabulatory syndromeBrain disorder caused by a lack of thiamine; the patient lacks any memories, and will often use visual cues to create new ones on the spot.
Familial dysautonomiaAutonomic nervous system disorder which causes insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure.
Glycogen storage disease type VMetabolic disorder characterized by persistent muscle weakness, fatigue, and myalgia.
Overwhelmingly known simply by eponymNeurodegenerative genetic disorder affecting muscle coordination and cognition. Most characteristic physical symptom is a spastic movement in one of the extremities, called a chorea.
Gonadal dysgenesisGenetic disorder affecting females in which one X chromosome is missing. Causes sterility and the absence of menstruation.
LeprosyChronic disease caused by bacterial infection and characterized by skin disfigurements.
Amyotrophic lateral sclerosisProgressive, fatal, motor neuron disorder named for a famous baseball player.
Trisomy 21Genetic disorder caused by the presence of an extra 21st chromosome. Its most characteristic symptom is mild to moderate mental retardation.
Granulomatous colitisInflammatory disease of the gastrointestinal tract, causing abdominal pain and sudden weight loss, as well as symptoms elsewhere like skin rashes and inflammation of the eye.
Clinical nameEponymSymptoms/other details
Infantile polyarteritisInflammation of middle-sized arteries in children affecting all organs, but most seriously the heart.
Polyostotic sclerosing histiocytosisRare immune system disorder classified as skeletal, but involves malfunction of one or more organs in more than half of its cases.
Hepatolenticular degenerationGenetic disorder in which copper accumulates in the body to the point of copper toxicity.
HyperadrenocorticismHormone disorder caused by an excess of cortisol in the bloodstream. Common in dogs and horses as well as humans.
Idiopathic unilateral facial nerve paralysisParalysis of the facial cranial nerve, which results in the patient being unable to move one side of their face or blink one eye.
Staphylococcal scalded skin syndromeDermatological condition caused by staph infections and characterized by easily-burst skin lesions. Severest form affects newborns.
American trypanosomiasisTropical parasitic disease caused by a flagellate protozoan. Untreated, the disease can cause malformation of the intestines.
Acute inflammatory demyelinating polyneuropathyAutoimmune disorder of the peripheral nervous system, and one of the leading causes of non-trauma paralysis.
Chronic adrenal insufficiencyEndocrine disorder in which the adrenal glands do not produce enough steroid hormones.
Overwhelmingly known simply by eponymForm of lymphoma, and one of the most treatable cancers; sharply contrasted with lymphomas which are NOT known by this name, which are among the least treatable cancers.
Hemophilia BNamed for a British child in whom it was first found.
Overwhelmingly known simply by eponymAutoimmune disease, mostly occurent in females, affecting the thyroid gland. It can cause the thyroid to enlarge into a goiter, and causes other hyperthyroid symptoms.
Juvenile idiopathic arthritisArthritis onset early in life with no clear cause. The most common symptoms are limping and pain.
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Last Updated: Feb 16, 2017

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