A disorder of coagulation that causes thrombosis in both arteries and veins, due to the autoimmune production of antibodies against phospholipids.
A rare eye disorder characterized by defects and errors in eye movement, caused by malfunctions of the superior oblique tendon sheath controlling eye movement.
A condition in which the median nerve is compressed at the wrist, leading to paresthesias, numbness and muscle weakness in the hand. Also known as median neuropathy at the wrist.
A chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Also known as trisomy 21.
A group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. Also known as Cutis hyperelastica.
A disorder that can occur to the embryo when a pregnant woman ingests alcohol during pregnancy.
A rare acute inflammatory demyelinating polyneuropathy, an autoimmune disorder affecting the peripheral nervous system, usually triggered by an acute infectious process.
A rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet storage pool defect, and lysosomal accumulation of ceroid lipofuscin.
A functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
A genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull, which prevents further growth of the skull and affects the shape of the head and face.
A condition in which males have an extra X sex chromosome. Also known as XXY Syndrome.
A condition in which a patient is aware and awake, but cannot move or communicate due to complete paralysis of nearly all voluntary muscles in the body except for the eyes.
Chemical pneumonia caused by aspiration during anaesthesia, especially during pregnancy.
A non-specific disorder in which the kidneys are damaged, causing them to leak large amounts of protein from the blood into the urine.
A type of food allergy typified by a cluster of allergic reactions in the mouth in response to eating certain (usually fresh) fruits, nuts, and vegetables that typically develops in adult hay fever sufferers.
A disease or symptom that is the consequence of the presence of cancer in the body, but is not due to the local presence of cancer cells.
A rare autoimmune disease, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis.
A psychological response sometimes seen in abducted hostages, in which the hostage shows signs of loyalty to the hostage-taker, regardless of the danger or risk in which they have been placed.
An inherited neuropsychiatric disorder with onset in childhood, characterized by the presence of multiple motor tics, and at least one phonic tic.
A relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Also known as dystrophia retinae dysacusis syndrome.
A rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency, and recurrent severe infections.
A syndrome of pre-excitation of the ventricles of the heart due to an accessory pathway known as the bundle of Kent. A type of atrioventricular reentrant tachycardia.
An aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome.
An extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue and cardiorespiratory systems.
A disorder where increased levels of the hormone gastrin are produced, causing the stomach to produce excess hydrochloric acid.