Syndromes - Chart
A comprehensive list of every syndrome known to medicine would be vast and impractical to compile. A syndrome is a collection of signs and symptoms that frequently appear together without a single, definitive cause. As medical knowledge evolves, a syndrome may be reclassified as a disease once its underlying cause is discovered.
Genetic Syndromes
Caused by abnormalities in an individual's genetic material.
Down Syndrome
Underlying Cause:
A chromosomal condition caused by the presence of a full or partial extra copy of chromosome 21.
Key Characteristics:
Characterized by distinct facial features, intellectual disability, developmental delays, and may be associated with thyroid or heart disease.
Angelman Syndrome
Underlying Cause:
A genetic disorder that mainly affects the nervous system, typically caused by a problem with a gene on chromosome 15 called UBE3A.
Key Characteristics:
Features include developmental delay, intellectual disability, severe speech impairment, and problems with movement and balance. A happy, excitable demeanor with frequent smiling and laughter is common.
Marfan Syndrome
Underlying Cause:
A disorder of the body's connective tissues, caused by a mutation in the FBN1 gene.
Key Characteristics:
People with Marfan syndrome are often tall and thin with disproportionately long arms, legs, fingers, and toes. It can affect the heart, eyes, blood vessels, and skeleton.
Fragile X Syndrome
Underlying Cause:
A genetic condition caused by a mutation in the FMR1 gene on the X chromosome.
Key Characteristics:
Causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common inherited cause of intellectual disability.
Neurological Syndromes
Primarily affecting the brain, spinal cord, and peripheral nerves.
Tourette Syndrome
Key Characteristics:
A disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics (e.g., blinking, sniffing, grunting).
Chronic Fatigue Syndrome (CFS/ME)
Key Characteristics:
A complex disorder characterized by extreme fatigue that lasts for at least six months and can't be fully explained by an underlying medical condition. The fatigue worsens with physical or mental activity but doesn't improve with rest.
Guillain-Barré Syndrome
Underlying Cause:
A rare disorder in which the body's immune system attacks the peripheral nervous system. It often follows a minor infection.
Key Characteristics:
Symptoms start as weakness and tingling in the feet and legs that spread to the upper body. Paralysis can occur.
Restless Legs Syndrome
Key Characteristics:
A condition that causes an uncontrollable urge to move the legs, typically because of an uncomfortable sensation. It often occurs in the evening or nighttime hours when sitting or lying down.
Autoimmune Syndromes
Where the body's immune system mistakenly attacks its own tissues.
Sjögren's Syndrome
Common Symptoms:
An immune system disorder primarily characterized by dry eyes and a dry mouth. It often accompanies other autoimmune disorders like rheumatoid arthritis and lupus.
Lupus
Key Characteristics:
A systemic autoimmune disease that occurs when the body's immune system attacks its own tissues and organs. Inflammation caused by lupus can affect many different body systems, including joints, skin, kidneys, blood cells, brain, heart, and lungs.
Antiphospholipid Syndrome
Key Characteristics:
A disorder in which the immune system mistakenly produces antibodies against certain proteins in the blood, leading to an increased risk of blood clots (thrombosis) in arteries and veins, as well as pregnancy complications.
Musculoskeletal Syndromes
Affecting muscles, bones, joints, ligaments, and tendons.
Carpal Tunnel Syndrome
Underlying Cause:
Caused by pressure on the median nerve as it travels through the carpal tunnel at the wrist.
Key Characteristics:
Symptoms include numbness, tingling, and pain in the hand and forearm.
Ehlers-Danlos Syndromes (EDS)
Underlying Cause:
A group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls.
Key Characteristics:
Symptoms include overly flexible joints (hypermobility), stretchy skin, and fragile skin that doesn't heal well.
Endocrine Syndromes
Related to the glands that produce hormones.
Cushing's Syndrome
Underlying Cause:
Occurs from exposure to high cortisol levels for a long time. This can be from long-term use of steroid drugs or from the body producing too much cortisol.
Polycystic Ovary Syndrome (PCOS)
Key Characteristics:
A hormonal disorder common among women of reproductive age, characterized by infrequent or prolonged menstrual periods, excess androgen levels, and numerous small collections of fluid (follicles) in the ovaries.
Metabolic Syndrome
Key Characteristics:
A cluster of conditions that occur together, increasing the risk of heart disease, stroke, and type 2 diabetes. These conditions include increased blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol or triglyceride levels.
Syndromes Related to External Factors
Caused by infections, toxins, or physical trauma.
Fetal Alcohol Syndrome
Underlying Cause:
A condition in a child that results from alcohol exposure during the mother's pregnancy, causing brain damage and growth problems.
Post-Concussion Syndrome
Key Characteristics:
A complex disorder in which various symptoms — such as headaches and dizziness — last for weeks and sometimes months after the injury that caused the concussion.
Toxic Shock Syndrome
Underlying Cause:
A rare, life-threatening complication of certain bacterial infections, often from Staphylococcus aureus (staph) bacteria.
Key Characteristics:
Symptoms include a high fever, low blood pressure, vomiting or diarrhea, a rash resembling a sunburn, particularly on your palms and soles, confusion, and muscle aches.