McKusick–Kaufman syndrome
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McKusick–Kaufman syndrome is a genetic condition associated with MKKS.
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The condition is named for Dr. Robert L. Kaufman and Victor McKusick.[1] It is sometimes known by the abbreviation MKS.[2] In infancy it can be difficult to distinguish between MKS and the related Bardet–Biedl syndrome, as the more severe symptoms of the latter condition rarely materialise before adulthood.[3]
McKusick-Kaufman syndrome affects 1 in 10,000 people in the Old Order Amish population. A case frequency outside of this population has not been established.[4]