What are examples of syndromes?

October 2, 2025 •

3 min read

Approximately 1 in 15,000 newborns are affected by Prader-Willi syndrome alone, a genetic disorder involving chromosome 15. Understanding what are examples of syndromes is crucial for distinguishing them from other medical conditions and grasping how they are diagnosed and managed.

Quick Summary

A syndrome is a collection of signs and symptoms that occur together and characterize a medical condition, often without a single, clearly defined cause. Examples span various fields, including genetic conditions like Down syndrome, endocrine disorders like Polycystic Ovary Syndrome (PCOS), and psychological conditions like Munchausen syndrome.

Key Points

Definition of Syndrome: A syndrome is a collection of signs and symptoms that consistently appear together, often without a singular, known cause.
Genetic Syndromes: Conditions like Down syndrome (extra chromosome 21) and Fragile X syndrome (mutation on the X chromosome) are caused by genetic or chromosomal abnormalities.
Neurological Syndromes: Tourette syndrome (involuntary tics) and Carpal Tunnel syndrome ( nerve compression) are examples of syndromes affecting the nervous system.
Endocrine Syndromes: Polycystic Ovarian Syndrome (PCOS) and Metabolic Syndrome involve hormone and metabolic abnormalities with multifactorial origins.
Psychological Syndromes: Munchausen syndrome and Diogenes syndrome are characterized by specific patterns of behavioral and psychological symptoms.
Syndrome vs. Disease: The main distinction is that a disease has a specific, known cause (e.g., a virus), whereas a syndrome is a cluster of symptoms whose cause may be unknown or complex.

What is a syndrome?

In medical terms, a syndrome is a recognizable pattern of signs, symptoms, or characteristics that occur together. The key difference from a disease is that, at the time of identification, the underlying cause of the syndrome may not be known. Over time, as medical knowledge progresses, the cause of a syndrome may be discovered, and it might be reclassified as a disease. However, many conditions remain classified as syndromes due to their complex or multifactorial origins.

Genetic and chromosomal syndromes

Many syndromes have a genetic or chromosomal basis. These result from gene mutations or chromosome abnormalities.

Down syndrome

A chromosomal disorder caused by an extra copy of chromosome 21.

Characteristics: Includes weak muscle tone, intellectual disabilities, specific facial features, and developmental delays.
Causes: A random event during reproductive cell formation.

Fragile X syndrome

The most common inherited cause of intellectual disability from a mutation on the X chromosome.

Characteristics: Cognitive impairments, social anxiety, and distinct physical features.

Turner syndrome

A genetic condition in females involving a partial or complete absence of an X chromosome.

Characteristics: Short stature, delayed puberty, heart defects, and infertility.

Neurological syndromes

These conditions affect the brain, spinal cord, and nerves, presenting with a constellation of neurological signs and symptoms.

Tourette syndrome

A neurological disorder characterized by involuntary, repetitive movements and vocalizations called tics.

Restless legs syndrome (RLS)

Also known as Willis-Ekbom disease, RLS causes an irresistible urge to move the legs, especially at rest.

Characteristics: Unpleasant sensations in the legs relieved by movement.

Carpal tunnel syndrome

Caused by compression of the median nerve in the wrist.

Characteristics: Numbness, tingling, and pain in the hand and fingers.

Endocrine and metabolic syndromes

These involve issues with hormones and metabolism.

Polycystic ovarian syndrome (PCOS)

A hormonal disorder in females of childbearing age with no single known cause.

Characteristics: Irregular periods, weight gain, infertility, and excess androgen hormones.

Metabolic syndrome

A cluster of conditions like high blood pressure, high blood sugar, and abnormal cholesterol levels, increasing risks of heart disease, stroke, and type 2 diabetes.

Psychological and behavioral syndromes

This group involves patterns of thought, emotion, and behavior.

Munchausen syndrome

A psychological disorder where a person feigns or induces illness for attention.

Diogenes syndrome

A behavioral disorder often in older adults, characterized by extreme self-neglect and social withdrawal.

Comparison of genetic and multifactorial syndromes


Feature	Genetic Syndromes (e.g., Down Syndrome)	Multifactorial Syndromes (e.g., PCOS)
Primary Cause	Specific genetic or chromosomal abnormality.	Multiple factors (genetics, environment, lifestyle).
Cause Certainty	Genetic root is well-defined.	Often unknown and complex.
Symptom Pattern	Consistent, recognizable pattern.	Variable cluster of symptoms.
Diagnosis	Genetic testing and clinical signs.	Clinical presentation and symptom clustering.
Treatment Focus	Genetic counseling, symptom management, intervention.	Symptom management (lifestyle, medication).

Rarer and emerging syndromes

Some syndromes are less common or newly identified.

Guillain-Barré Syndrome (GBS): A rare neurological disorder where the immune system attacks nerves, often triggered by infection.
Multisystem Inflammatory Syndrome (MIS-C/MIS-A): A severe inflammatory condition after COVID-19, primarily in children.
Chronic Fatigue Syndrome (CFS): Debilitating fatigue and other symptoms, with an unknown exact cause.
Alpha-gal Syndrome: A tick-borne allergy to red meat.

Conclusion: The complexity and ongoing study of syndromes

Exploring what are examples of syndromes highlights the vast and complex landscape of human health. Syndromes represent conditions where a pattern of symptoms is recognized, even if the underlying mechanisms are not fully understood. The examples, from genetic to emerging conditions, show that medicine is dynamic and understanding evolves with research. This distinction from diseases allows for a comprehensive approach to patient care, managing symptoms while scientific inquiry continues.

For more information on the distinction between syndromes and other medical conditions, refer to the detailed explanations on the National Institutes of Health website at https://www.nih.gov/health-information/nih-clinical-research-trials-you.

Frequently Asked Questions

A disease is a medical condition with a specific, known cause, such as a pathogen or genetic mutation, and a predictable course. In contrast, a syndrome is a cluster of symptoms that occur together, but the underlying cause is often unknown or multifactorial.

Yes, as medical science advances, the root cause of a syndrome may be discovered. When this happens, the condition may be reclassified as a disease, allowing for more targeted and effective treatment.

No, not all syndromes are genetic. While many, like Down syndrome, have a genetic basis, others can be caused by infections (e.g., Multisystem Inflammatory Syndrome) or have psychological, neurological, or multifactorial origins (e.g., Irritable Bowel Syndrome).

Syndromes are diagnosed based on the recognition of a specific pattern or cluster of signs and symptoms. Doctors use clinical presentation, medical and family history, and sometimes a combination of tests to confirm that the patient's symptoms fit the criteria for a specific syndrome.

Polycystic Ovarian Syndrome (PCOS) and Fibromyalgia are examples of syndromes that are more common in women. While PCOS occurs only in women, Fibromyalgia is also more prevalent among them.

Munchausen syndrome is a behavioral syndrome where a person deliberately creates or exaggerates physical or psychological symptoms to assume the 'sick role' for attention or sympathy.

Not necessarily. The severity of a syndrome can vary widely among individuals. Some people with a syndrome may experience only mild symptoms, while others may have more serious health complications.