Protocol Online logo
Top : Forum Archives: : Genetics

disease, disorder, or syndrome? - (Mar/21/2006 )

What is the difference between the terms disease, disorder, syndrome?

For example why is Turner syndrome, not Turner disease? Or Huntingdon's disorder instead of Huntingdon's disease?



A disease is an impairment of the normal state of the living animal or plant body or one of its parts that interrupts or modifies the performance of the vital functions, is typically manifested by distinguishing signs and symptoms, and is a response to environmental factors (as malnutrition, industrial hazards, or climate), to specific infective agents (as worms, bacteria, or viruses), to inherent defects of the organism (as genetic anomalies), or to combinations of these factors. The cause or causes of which are known.

A disorder is an abnormal physical or mental condition.

A syndrome is the association of several clinically recognizable features, signs, symptoms, phenomena or characteristics which often occur together, so that the presence of one feature alerts to the presence of the others. In recent decades the term has been used outside of medicine to refer to a combination of phenomena seen in association.

Turner's Syndrome is a genetically determined condition that is typically associated with the presence of only one complete X chromosome and no Y chromosome and with characteristics including a female phenotype, underdeveloped and usually infertile ovaries, absence of menstrual onset, short stature, excess skin about the neck, cubitus valgus, aortic coarctation, and a low hairline on the back of the neck. (notice that there are many features, that when the doctor investigates one, another feature will be discovered, that will lead to this diagnosis).

Huntinton's disease is a progressive chorea that is inherited as an autosomal dominant trait, that usually begins in middle age, that is characterized by choreiform movements and mental deterioration leading to dementia, and that is accompanied by atrophy of the caudate nucleus and the loss of certain brain cells with a decrease in the level of several neurotransmitters -- called also Huntington's. (notice that it is a change in the normal state, and has a known cause).

Multiple personality disorder a dissociative disorder that is characterized by the presence of two or more distinct and complex identities or personality states each of which becomes dominant and controls behavior from time to time to the exclusion of the others. (not a syndrom, because there are not many features to it. It's not a disease, because it doesn't have a known cause. But it is a disorder becase it's not normal.)