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A syndrome is a set of medical
signs and symptoms Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showin ...
which are correlated with each other and often associated with a particular
disease A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...
or disorder. The word derives from the
Greek Greek may refer to: Greece Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group. *Greek language, a branch of the Indo-European language family. **Proto-Greek language, the assumed last common ancestor ...
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 Pathogenesis is the process by which a disease or disorder develops. It can include factors which contribute not only to the onset of the disease or disorder, but also to its progression and maintenance. The word comes from Greek πάθος ''pat ...
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
phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
s that are listed in
OMIM Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM r ...
are described as dysmorphic, which usually refers to the facial gestalt. For example,
Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...
,
Wolf–Hirschhorn syndrome Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 (del(4p16.3)). Features include a distinct craniofacial phenotype and intellectual disability. Signs and sympto ...
, and
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 f ...
are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syndrome is not specific to only one disease. For example,
toxic shock syndrome Toxic shock syndrome (TSS) is a condition caused by bacterial toxins. Symptoms may include fever, rash, skin peeling, and low blood pressure. There may also be symptoms related to the specific underlying infection such as mastitis, osteomyeliti ...
can be caused by various toxins; premotor syndrome can be caused by various brain lesions; and
premenstrual syndrome Premenstrual syndrome (PMS) refers to emotional and physical symptoms that regularly occur in the one to two weeks before the start of each menstrual period. Symptoms resolve around the time menstrual bleeding begins. Different women experienc ...
is not a disease but simply a set of symptoms. If an underlying genetic cause is suspected but not known, a condition may be referred to as a
genetic association Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence. Studies of genetic association aim to test whether single-locus alleles or genotype fre ...
(often just "association" in context). By definition, an association indicates that the collection of signs and symptoms occurs in combination more frequently than would be likely by chance alone. Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such
eponym An eponym is a person, a place, or a thing after whom or which someone or something is, or is believed to be, named. The adjectives which are derived from the word eponym include ''eponymous'' and ''eponymic''. Usage of the word The term ''epon ...
ous syndrome names are examples of
medical eponym Medical eponyms are terms used in medicine which are named after people (and occasionally places or things). In 1975, the Canadian National Institutes of Health held a conference that discussed the naming of diseases and conditions. This was repo ...
s. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage. The defining of syndromes has sometimes been termed syndromology, but it is usually not a separate discipline from
nosology Nosology () is the branch of medical science that deals with the classification of diseases. Fully classifying a medical condition requires knowing its cause (and that there is only one cause), the effects it has on the body, the symptoms that ...
and
differential diagnosis In healthcare, a differential diagnosis (abbreviated DDx) is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing a particular disease or condition from others that p ...
generally, which inherently involve pattern recognition (both
sentient Sentience is the capacity to experience feelings and sensations. The word was first coined by philosophers in the 1630s for the concept of an ability to feel, derived from Latin '' sentientem'' (a feeling), to distinguish it from the ability to ...
and
automated Automation describes a wide range of technologies that reduce human intervention in processes, namely by predetermining decision criteria, subprocess relationships, and related actions, as well as embodying those predeterminations in machines ...
) and differentiation among overlapping sets of signs and symptoms. Teratology (dysmorphology) by its nature involves the defining of congenital syndromes that may include
birth defect A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...
s (pathoanatomy), dysmetabolism (pathophysiology), and
neurodevelopmental disorder Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental ...
s.


Subsyndromal

When there are a number of symptoms suggesting a particular disease or condition but does not meet the defined criteria used to make a diagnosis of that disease or condition. This can be a bit subjective because it is ultimately up to the clinician to make the diagnosis. This could be because it has not advanced to the level or passed a threshold or just similar symptoms cause by other issues. Subclinical is synonymous since one of its definitions is "where some criteria are met but not enough to achieve clinical status"; but
subclinical In medicine, any disease is classified asymptomatic if a patient tests as carrier for a disease or infection but experiences no symptoms. Whenever a medical condition fails to show noticeable symptoms after a diagnosis it might be considered asym ...
is not always interchangeable since it can also mean "not detectable or producing effects that are not detectable by the usual clinical tests"; i.e., asymptomatic.


Usage


General medicine

In medicine, a broad definition of syndrome is used, which describes a collection of symptoms and findings without necessarily tying them to a single identifiable pathogenesis. Examples of infectious syndromes include
encephalitis Encephalitis is inflammation of the brain. The severity can be variable with symptoms including reduction or alteration in consciousness, headache, fever, confusion, a stiff neck, and vomiting. Complications may include seizures, hallucinations, ...
and
hepatitis Hepatitis is inflammation of the liver tissue. Some people or animals with hepatitis have no symptoms, whereas others develop yellow discoloration of the skin and whites of the eyes (jaundice), poor appetite, vomiting, tiredness, abdominal pa ...
, which can both have several different infectious causes. The more specific definition employed in
medical genetics Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the caus ...
describes a subset of all medical syndromes.


Psychiatry and psychopathology

Psychiatric syndromes often called ''psychopathological syndromes'' (
psychopathology Psychopathology is the study of abnormal cognition, behaviour, and experiences which differs according to social norms and rests upon a number of constructs that are deemed to be the social norm at any particular era. Biological psychopatholo ...
refers both to psychic dysfunctions occurring in
mental disorders A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitti ...
, and the study of the origin, diagnosis, development, and treatment of mental disorders). In
Russia Russia (, , ), or the Russian Federation, is a List of transcontinental countries, transcontinental country spanning Eastern Europe and North Asia, Northern Asia. It is the List of countries and dependencies by area, largest country in the ...
those psychopathological syndromes are used in modern clinical practice and described in psychiatric literature in the details: asthenic syndrome, obsessive syndrome, emotional syndromes (for example, manic syndrome, depressive syndrome), Cotard's syndrome, catatonic syndrome, hebephrenic syndrome,
delusion A delusion is a false fixed belief that is not amenable to change in light of conflicting evidence. As a pathology, it is distinct from a belief based on false or incomplete information, confabulation, dogma, illusion, hallucination, or some o ...
al and
hallucinatory A hallucination is a perception in the absence of an external stimulus that has the qualities of a real perception. Hallucinations are vivid, substantial, and are perceived to be located in external objective space. Hallucination is a combinatio ...
syndromes (for example, paranoid syndrome, paranoid-hallucinatory syndrome,
Kandinsky Wassily Wassilyevich Kandinsky (; rus, Василий Васильевич Кандинский, Vasiliy Vasilyevich Kandinskiy, vɐˈsʲilʲɪj vɐˈsʲilʲjɪvʲɪtɕ kɐnʲˈdʲinskʲɪj;  – 13 December 1944) was a Russian painter a ...
- Clérambault's syndrome also known as syndrome of psychic automatism, hallucinosis), paraphrenic syndrome, psychopathic syndromes (includes all personality disorders),
clouding of consciousness Clouding of consciousness (also known as brain fog or mental fog) occurs when a person is slightly less Wakefulness, wakeful or Awareness, aware than normal. They are not as aware of time or their surroundings and find it difficult to pay attentio ...
syndromes (for example, twilight clouding of consciousness, amential syndrome also known as amentia, delirious syndrome, stunned consciousness syndrome,
oneiroid syndrome Oneiroid syndrome (OS) is a condition involving dream-like disturbances of one's consciousness by vivid scenic hallucinations, accompanied by catatonic symptoms (either catatonic stupor or excitement), delusions, or psychopathological experience ...
), hysteric syndrome, neurotic syndrome,
Korsakoff's syndrome Korsakoff syndrome (KS) is a disorder of the central nervous system characterized by amnesia, deficits in explicit memory, and confabulation. This neurological disorder is caused by a deficiency of thiamine (vitamin B1) in the brain, and it is ...
, hypochondriacal syndrome, paranoiac syndrome, senestopathic syndrome, encephalopathic syndrome. Some examples of psychopathological syndromes used in modern Germany are psychoorganic syndrome, depressive syndrome, paranoid-hallucinatory syndrome, obsessive-compulsive syndrome, autonomic syndrome, hostility syndrome, manic syndrome, apathy syndrome.
Münchausen syndrome Factitious disorder imposed on self, also known as Munchausen syndrome, is a factitious disorder in which those affected feign or induce disease, illness, injury, abuse, or psychological trauma to draw attention, sympathy, or reassurance to th ...
,
Ganser syndrome Ganser syndrome is a rare dissociative disorder characterized by nonsensical or wrong answers to questions and other dissociative symptoms such as fugue, amnesia or conversion disorder, often with visual pseudohallucinations and a decreased state ...
,
neuroleptic-induced deficit syndrome Neuroleptic-induced deficit syndrome (NIDS) is a psychopathological syndrome that develops in some patients who take high doses of an antipsychotic for an extended time. It is most often caused by high-potency typical antipsychotics, but can also b ...
,
olfactory reference syndrome Olfactory reference syndrome (ORS) is a psychiatric condition in which there is a persistent false belief and preoccupation with the idea of emitting abnormal body odors which the patient thinks are foul and offensive to other individuals. People w ...
are also well-known.


History

The most important psychopathological syndromes were classified into three groups ranked in order of severity by German psychiatrist
Emil Kraepelin Emil Wilhelm Georg Magnus Kraepelin (; ; 15 February 1856 – 7 October 1926) was a German psychiatrist. H. J. Eysenck's ''Encyclopedia of Psychology'' identifies him as the founder of modern scientific psychiatry, psychopharmacology and psychi ...
(1856—1926). The first group, which includes the mild disorders, consists of five syndromes: emotional, paranoid, hysterical,
delirious Delirious may refer to: * A state of delirium Film and television * Delirious (1991 film), ''Delirious'' (1991 film), an American comedy directed by Tom Mankiewicz, starring John Candy * Delirious (2006 film), ''Delirious'' (2006 film), an Americ ...
, and impulsive. The second, intermediate, group includes two syndromes:
schizophrenic Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...
syndrome and speech-hallucinatory syndrome. The third includes the most severe disorders, and consists of three syndromes:
epileptic Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical ...
, oligophrenic and
dementia Dementia is a disorder which manifests as a set of related symptoms, which usually surfaces when the brain is damaged by injury or disease. The symptoms involve progressive impairments in memory, thinking, and behavior, which negatively affe ...
. In Kraepelin's era, epilepsy was viewed as a mental illness;
Karl Jaspers Karl Theodor Jaspers (, ; 23 February 1883 – 26 February 1969) was a German-Swiss psychiatrist and philosopher who had a strong influence on modern theology, psychiatry, and philosophy. After being trained in and practicing psychiatry, Jasper ...
also considered "genuine epilepsy" a "
psychosis Psychosis is a condition of the mind that results in difficulties determining what is real and what is not real. Symptoms may include delusions and hallucinations, among other features. Additional symptoms are incoherent speech and behavior ...
", and described "the three major psychoses" as schizophrenia, epilepsy, and manic-depressive illness.


Medical genetics

In the field of medical genetics, the term "syndrome" is traditionally only used when the underlying genetic cause is known. Thus,
trisomy 21 A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reprodu ...
is commonly known as Down syndrome. Until 2005,
CHARGE syndrome CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart ...
was most frequently referred to as "CHARGE association". When the major causative gene (''
CHD7 Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the ''CHD7'' gene. CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protei ...
'') for the condition was discovered, the name was changed. The consensus underlying cause of
VACTERL association The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome, because t ...
has not been determined, and thus it is not commonly referred to as a "syndrome".


Other fields

In biology, "syndrome" is used in a more general sense to describe characteristic sets of features in various contexts. Examples include
behavioral syndrome In behavioral ecology, a behavioral syndrome is a correlated suite of behavioral traits, often (but not always) measured across multiple contexts. The suite of traits that are correlated at the population or species level is considered the behavi ...
s, as well as
pollination syndrome Pollination syndromes are suites of flower traits that have evolved in response to natural selection imposed by different pollen vectors, which can be abiotic (wind and water) or biotic, such as birds, bees, flies, and so forth through a process c ...
s and
seed dispersal syndrome Seed dispersal syndromes are morphological characters of seeds correlated to particular seed dispersal agents.Clobert, J., Le Galliard, J.F., Cote, J., Meylan, S. & Massot, M. (2009). Informed dispersal, heterogeneity in animal dispersal syndromes a ...
s. In orbital mechanics and astronomy,
Kessler syndrome The Kessler syndrome (also called the Kessler effect, collisional cascading, or ablation cascade), proposed by NASA scientist Donald J. Kessler in 1978, is a scenario in which the density of objects in low Earth orbit (LEO) due to space pollut ...
refers to the effect where the density of objects in
low Earth orbit A low Earth orbit (LEO) is an orbit around Earth with a period of 128 minutes or less (making at least 11.25 orbits per day) and an eccentricity less than 0.25. Most of the artificial objects in outer space are in LEO, with an altitude never mor ...
(LEO) is high enough that collisions between objects could cause a cascade in which each collision generates
space debris Space debris (also known as space junk, space pollution, space waste, space trash, or space garbage) are defunct human-made objects in space—principally in Earth orbit—which no longer serve a useful function. These include derelict spacecr ...
that increases the likelihood of further collisions. In
quantum error correction Quantum error correction (QEC) is used in quantum computing to protect quantum information from errors due to decoherence and other quantum noise. Quantum error correction is theorised as essential to achieve fault tolerant quantum computing that ...
theory syndromes correspond to errors in code words which are determined with syndrome measurements, which only collapse the state on an error state, so that the error can be corrected without affecting the quantum information stored in the code words.


Naming

There is no set common convention for the naming of newly identified syndromes. In the past, syndromes were often named after the physician or scientist who identified and described the condition in an initial publication. These are referred to as "eponymous syndromes". In some cases, diseases are named after the patient who initially presents with symptoms, or their home town (
Stockholm syndrome Stockholm syndrome is a condition in which hostages develop a psychological bond with their captors. It is supposed to result from a rather specific set of circumstances, namely the power imbalances contained in hostage-taking, kidnapping, an ...
). There have been isolated cases of patients being eager to have their syndromes named after them, while their physicians are hesitant. When a syndrome is named after a person, there is some difference of opinion as to whether it should take the
possessive A possessive or ktetic form (abbreviated or ; from la, possessivus; grc, κτητικός, translit=ktētikós) is a word or grammatical construction used to indicate a relationship of possession in a broad sense. This can include strict owne ...
form or not (e.g.
Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...
vs. Down's syndrome). North American usage has tended to favor the non-possessive form, while European references often use the possessive. Even in Europe, there has been a trend away from the possessive form, over the period between 1970 and 2008.


History

Avicenna Ibn Sina ( fa, ابن سینا; 980 – June 1037 CE), commonly known in the West as Avicenna (), was a Persian polymath who is regarded as one of the most significant physicians, astronomers, philosophers, and writers of the Islamic G ...
, in ''
The Canon of Medicine ''The Canon of Medicine'' ( ar, القانون في الطب, italic=yes ''al-Qānūn fī al-Ṭibb''; fa, قانون در طب, italic=yes, ''Qanun-e dâr Tâb'') is an encyclopedia of medicine in five books compiled by Persian physician-phi ...
'' (published 1025), pioneered the idea of a syndrome in the diagnosis of specific diseases.Lenn Evan Goodman (2003), ''Islamic Humanism'', p. 155,
Oxford University Press Oxford University Press (OUP) is the university press of the University of Oxford. It is the largest university press in the world, and its printing history dates back to the 1480s. Having been officially granted the legal right to print books ...
, .
The concept of a medical syndrome was further developed in the 17th century by
Thomas Sydenham Thomas Sydenham (10 September 1624 – 29 December 1689) was an English physician. He was the author of ''Observationes Medicae'' which became a standard textbook of medicine for two centuries so that he became known as 'The English Hippocrate ...
.


Underlying cause

Even in syndromes with no known
etiology Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, e ...
, the presence of the associated symptoms with a statistically improbable correlation normally leads the researchers to hypothesize that there exists an unknown underlying cause for all the described symptoms.


See also

*
List of syndromes This is an alphabetically sorted list of medical syndromes. starting with numbers. #13q deletion syndrome # 17q21.31 microdeletion syndrome #1p36 deletion syndrome # 1q21.1 deletion syndrome #1q21.1 duplication syndrome # 22q11.2 distal deletion ...
*
Toxidrome A toxidrome (a portmanteau of ''toxic'' and ''syndrome'') is a syndrome caused by a dangerous level of toxins in the body. The term was coined in 1970 by Mofenson and Greensher. It is often the consequence of a drug overdose. Common symptoms incl ...
*
Symptom Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showin ...
*
Sequence (medicine) In medicine, a sequence is a series of ordered consequences due to a single cause. It differs from a syndrome in that seriality is more predictable: if A causes B, and B causes C, and C causes D, then D would not be seen if C is not seen. However, ...


References


External links


Whonamedit.com
- a repository of medical eponyms {{Authority control Medical terminology