A member asked:

What is the least common genetic disease that is seen in the u.s.?

A doctor has provided 1 answer
Dr. Richard Roberts answered

Specializes in Pediatrics

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?

Answered 3/29/2021

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