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Carion Fenn Foundation 100 Rare Disease & Disorders List:

A list narrowed down to help simplify the understanding of what is a rare disease to allow the public to get a better understand of Rare Diseases & Disorders affecting our Communities. 


  • Alzheimer
  • Arthritis
  • Autism  
  • Bronchiolitis
  • Burning mouth syndrome
  • Cardiac rupture
  • Cardiocranial syndrome
  • Cancer 
  • Carpenter syndrome
  • Central post-stroke pain
  • Cerebral palsy
  • Cervical dystonia
  • CHILD syndrome
  • Chiari Malformation
  • Cholesterol
  • Crohn's disease 
  • Cystic fibrosis
  • Deafness
  • Dementia
  • Diabetes
  • Dystonia
  • EDS (Ehlers Danlos Syndrome)
  • Epilepsy
  • Fetal Alcohol Spectrum Disorders
  • Fibromuscular dysplasia
  • Fibromyalgia
  • Fish-eye disease
  • Fraser syndrome
  • Gallbladder
  • Glaucoma
  • Headache
  • Heart disease
  • Heart tumor
  • Hepatitis
  • Hutchinson
  • Hydrocephalus
  • Impairment of oral perception
  • Intracranial Hypertension
  • Intractable hiccups
  • NF (Neurofibromatosis)
  • LAM (Lymphangioleiomyomatosis)
  • Leukemia
  • Lupus nephritis
  • Measles
  • Meningitis
  • Mumps
  • Muscular dystrophy
  • Paine syndrome
  • Paraplegia
  • Parkinson 
  • Polio
  • Q fever
  • Rabies
  • Rubella
  • Sarcoidosis
  • SARS
  • Scoliosis
  • Sickle cell anemia
  • Sjogren's Syndrome 
  • Smallpox
  • Spina bifida
  • Spinal cord neoplasm
  • Syringobulbia
  • Syringomyelia
  • Tick paralysis
  • Tuberculosis
  • Whooping cough
  • Yellow fever

List Narrowed down from Global Genes Rare List & Names given by those we provide support to. 

What is a condition? 
The word condition is used in the sense of ‘state’ or ‘an illness or a medical problem. Sometimes a syndrome can be caused by a number of diseases or can be a medical condition, which is defined as: “an abnormal state of health that interferes with the usual activities or feeling of wellbeing.” For example chronic fatigue syndrome is a neurological condition, diagnosed from a collection of symptoms in addition to the main symptom of post-exertional malaise.

Rare Disease Facts by Global Genes: 

Global Genes RARE List™ is comprised of approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide. Global Genes often asked why some common diseases are included on the RARE List™.  The answer is two fold:

  • This is a list of rare diseases defined in the United States where a prevalence of less than 200,000 cases is the primary criteria. Diseases such as malaria are quite common in some parts of the world, but are considered rare in the United States
  • Other diseases such as Cancer or Alzheimer's are not rare diseases as a whole but certain forms of these disease are considered rare. 


Rare Diseases



Down syndrome is a well-known genetic disorder, and is characterised by having an extra copy of chromosome 21 in combination with a number of distinctive physical features at birth. Sometimes a syndrome can be caused by a number of diseases or can be a medical condition, which is defined as:
“an abnormal state of health that interferes with the usual activities or feeling of wellbeing.”
For example chronic fatigue syndrome is a neurological condition, diagnosed from a collection of symptoms in addition to the main symptom of post-exertional malaise.

According to the Canadian Organization for Rare Disorders: 60% of treatments for rare disorders make it into Canada and most get approved up to six years later than in the USA and Europe. People with rare disorders in Canada are missing out on treatments that could save or significantly improve their lives. This needs to change. About 80% of rare diseases are caused by genetic changes. 25% of children with a rare disease will not live to see their 10th birthday.

While doctors diagnose and treat a disease, a disorder describes:“the disruption of the disease to the normal or regular functions in the body or a part of the body.” For example, a disorder resulting from cardiovascular disease is an arrhythmia or heart failure.
Disorders can be classified into: Mental, Physical, Genetic, Emotional, Behavioural or Structural.

What IS the difference?
One of the original definitions of ‘what is a disease?’ was published in the BMJ in 1900 and defines disease as: “resulting from a pathophysiological response to external or internal factors.” Today, doctors treat and diagnose a disease based on abnormality in systemic function (eg cardiovascular disease) that causes both physical and emotional signs and symptoms to prevent pain, dysfunction, distress, social problems or death.

Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear.

What is Rare Disease? Chances are, if you don't know a Rare Disease, it is. Diseases such as Cancer or Alzheimer's are not rare diseases as a whole but certain forms of these disease are considered rare. Either way, we are still one community and together we are stronger. 

What is a Syndrome?

A syndrome refers to a disease or a disorder that has more than one identifying feature or symptom. In other words, a syndrome is: “a collection or set of signs and symptoms that characterise a particular condition.” Down syndrome is a well-known genetic disorder, and is characterised by having an extra copy of chromosome 21 in combination with a number of distinctive physical features at birth. Sometimes a syndrome can be caused by a number of diseases or can be a medical condition, which is defined as: “an abnormal state of health that interferes with the usual activities or feeling of wellbeing.” For example chronic fatigue syndrome is a neurological condition, diagnosed from a collection of symptoms in addition to the main symptom of post-exertional malaise.

​​There are over 7000 known rare diseases/disorders. 1 in 12 Canadians will be affected by a rare disease. Rare in the USA, when it affects fewer than 200,000 Americans at any given time. In Europe when a disease affects fewer than 1 in 2000 person, the disease is defined as rare. 50% of rare diseases touch children. 


Some familiar names of Rare Disease or Disorders: Alzheimer, Arthritis, Autism, Bronchiolitis, Cancer, Cerebral palsy, Cervical Dystonia, CHILD syndrome, Cholesterol, Headache, Cystic fibrosis, Crohn's Disease, Deafness, Dementia, Diabetes, and more. See the list of Rare Diseases for more details. 


Canada: A rare disease is a condition affecting fewer than 1 person in 2000 in their lifetime. 

USA: A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

Europe: In Europe when a disease affects fewer than 1 in 2000 person, the disease is defined as rare. One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.


80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.