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SCIENCE
Life - Biology
Most Common Genetic Disorders
This list features the most common genetic disorders afflicting humans.
RANK | DISORDER | COMMONALITY |
1 | Sickle Cell Disease | 1 in 365 (African Americans) |
2 | Down Syndrome | 1 in 700 |
3 | Congenital Deafness | 1 in 1,000 |
4 | Turner Syndrome | 1 in 2,500 |
5 | Cystic Fibrosis | 1 in 3,500 |
6 | Duchenne’s Muscular Dystrophy | 1 in 3,500 (males) |
7 | Fragile X Syndrome | 1 in 4,000 (males) |
8 | Marfan Syndrome | 1 in 5,000 |
9 | Hemophilia | 1 in 5,000 (males) |
10 | Ehlers-Danlos Syndrome | 1 in 5,000 (general population) |
11 | Huntington’s Disease | 1 in 10,000 |
12 | Thalassemia | 1 in 100,000 (varies by ethnicity) |
13 | Tay-Sachs Disease | 1 in 320,000 (Ashkenazi Jewish) |
References
Orphanet. (n.d.). Beta-thalassemia. Available at: https://www.orpha.net/en/disease/detail/848 (Accessed 1 December 2025).
Cleveland Clinic. (n.d.). Genetic disorders. Available at: https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders (Accessed 1 December 2025).
Regis College. (n.d.). 5 common genetic disorders. Available at: https://online.regiscollege.edu/blog/information-5-common-genetic-disorders/ (Accessed 1 December 2025).
Top Doctors. (n.d.). Genetic disorders. Available at: https://www.topdoctors.co.uk/medical-dictionary/genetic-disorders (Accessed 1 December 2025).
Care Options for Kids. (n.d.). Most common genetic disorders. Available at: https://careoptionsforkids.com/blog/most-common-genetic-disorders (Accessed 1 December 2025).
National Human Genome Research Institute. (n.d.). Tay-Sachs disease. Available at: https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease (Accessed 1 December 2025).
UCSF Health. (n.d.). Huntington’s disease. Available at: https://www.ucsfhealth.org/conditions/huntingtons-disease (Accessed 1 December 2025).
NORD. (n.d.). Duchenne muscular dystrophy. Available at: https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/ (Accessed 1 December 2025).
MedlinePlus. (n.d.). Hemophilia. Available at: https://medlineplus.gov/genetics/condition/hemophilia/ (Accessed 1 December 2025).
MedlinePlus. (n.d.). Ehlers-Danlos syndrome. Available at: https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/ (Accessed 1 December 2025).
ScienceDirect. (n.d.). Congenital hearing loss. Available at: https://www.sciencedirect.com/topics/medicine-and-dentistry/congenital-hearing-loss (Accessed 1 December 2025).
MedlinePlus. (n.d.). Turner syndrome. Available at: https://medlineplus.gov/genetics/condition/turner-syndrome/ (Accessed 1 December 2025).
National Center for Biotechnology Information. (n.d.). Fragile X syndrome. Available at: https://medlineplus.gov/genetics/condition/fragile-x-syndrome/ (Accessed 1 December 2025).
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