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Syndromes
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Andersen–Tawil Syndrome
Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an Electrocardiography, electrocardiogram (a long QT interval) and a tendency to Heart arrhythmia, abnormal heart rhythms, physical characteristics including low-set ears and a Micrognathism, small lower jaw, and intermittent periods of muscle weakness known as Hypokalemic periodic paralysis, hypokalaemic periodic paralysis. Andersen–Tawil syndrome is inherited in an autosomal dominant pattern. It is caused in most cases by a mutation in the Kir2.1, ''KCNJ2'' gene which encodes an ion channel that transports potassium out of cardiac muscle cells. The arrhythmias seen in the condition can be treated with flecainide or Beta blocker, beta-blockers, but an Implantable cardioverter- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
