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Specialty: Medical genetics: Symptoms: Overly flexible joints, stretchy skin, abnormal scar formation [1]: Complications: Aortic dissection, joint dislocations, osteoarthritis, [1] amplified musculoskeletal pain syndrome [2]
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
The optic nerve can be at very high risk for damage from insufficient blood supply due to swelling (from lack of oxygen) in a confined bony space resulting in a compartment syndrome. Restricted blood flow can lead to permanent damage to the optic nerve and result in blindness (often in both eyes).
Reversible cerebral vasoconstriction syndrome (RCVS, sometimes called Call-Fleming syndrome) is a disease characterized by a weeks-long course of thunderclap headaches, sometimes focal neurologic signs, and occasionally seizures. [1] Symptoms are thought to arise from transient abnormalities in the blood vessels of the brain. [1]
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. [1]
Susac's syndrome (retinocochleocerebral vasculopathy) is a very rare form of microangiopathy characterized by encephalopathy, branch retinal artery occlusions and hearing loss. [1] The cause is unknown but it is theorized that antibodies are produced against endothelial cells in tiny arteries which leads to damage and the symptoms related to ...
Havana syndrome (also known as "anomalous health incidents" [1] [7]) is a disputed medical condition reported primarily by U.S. diplomatic, intelligence, and military officials stationed in overseas locations.
Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by an abnormally large increase in heart rate upon sitting up or standing. [1] POTS is a disorder of the autonomic nervous system that can lead to a variety of symptoms, [10] including lightheadedness, brain fog, blurred vision, weakness, fatigue, headaches, heart palpitations, exercise intolerance, nausea ...