A 44-year-old member asked:
What is the most common genetic disorder in the u.s.?
1 doctor answer • 4 doctors weighed in

Dr. Richard Robertsanswered
Pediatrics 48 years experience
Too complex to answer: There are Mendelian disorders: X-linked recessive, X-linked dominant, autosomal dominant, and autosomal recessive. There are genetic disorders caused by abnormal amounts of chromosomal material: trisomies, deletions, and duplications. The largest group are disorders in which there is clearly a genetic component, but non-genetic factors are also important. No easy answer.
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Dr. Richard Roberts commented
Pediatrics 48 years experience
Provided original answer
I should also mention the great importance of epigenetic factors: those factors which can interfere with normal genetic expression--such as turning off a particular gene which should be functioning, or vice versa.
Nov 22, 2016
Similar questions
A 36-year-old member asked:
What is the least common genetic disease that is seen in the U.S.?
1 doctor answer • 2 doctors weighed in

Dr. Richard Robertsanswered
Pediatrics 48 years experience
Unknown: Some are rarer than one in 100,000. We are continually finding new genetic disorders and we may have no clue with regard to how frequent they are. Dozens of severe multiple malformation syndromes exist which are striking but none of the world's geneticists have a clue with regard to what causes them. How do you estimate frequency of a single case in the world's medical literature?
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2.7k viewsReviewed >2 years ago
A 40-year-old member asked:
Can you tell me about the most common genetic disorder?
2 doctor answers • 2 doctors weighed in

Dr. Anna-Kaisa Niemianswered
Clinical Genetics 18 years experience
Thalassemias: Alpha and beta thalassemias are estimated to be the most common genetic conditions. Who has a nice article and list of common genetic conditions in the world, here link for your convenience: http://www.Who.Int/genomics/public/geneticdiseases/en/index2.Html.
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4.2k viewsReviewed >2 years ago
A 51-year-old member asked:
Which genetic disorders are most common and least common?
1 doctor answer • 1 doctor weighed in

Dr. Dan Fisheranswered
Internal Medicine 29 years experience
Depends: on how strictly you define things. The big ones are:
familial hyperlipidemia
Cystic Fibrosis
Thalassemia
Muscular Dystrophies
Down's Syndrome
Fragile X
Hemochromatosis
Sickle Cell Disease
Alpha 1 antitrypsin deficiency.
There are many many diseases of which there are only a few in the whole world and there are probably a few we haven't seen yet.
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2.8k viewsAnswered >2 years ago
A 30-year-old member asked:
What are the most common genetic disorders?
1 doctor answer • 1 doctor weighed in

Dr. Gurmukh Singhanswered
Pathology 51 years experience
It depends on what: You call genetic. Almost all diseases are a combination of genes and environment. Consult the following site of a list of common single gene defects.http://archive.blisstree.com/feel/ten-most-common-inherited-genetic-diseases/.
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5.7k viewsAnswered >2 years ago
Last updated Jan 25, 2020
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