McKusick–Kaufman syndrome

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McKusick–Kaufman syndrome
Classification and external resources
OMIM 236700
DiseasesDB 33261

McKusick–Kaufman syndrome is a genetic condition associated with MKKS.

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.


MKS is inherited in an autosomal recessive dominance pattern.[3] Both parents of the affected must be heterozygous carriers of the pathogenic variant. Heterozygous carriers for MKS show no symptoms of the disorder, nor can they develop the disorder. Each child of these carriers has a 1/4 chance of being affected by MKS, a 1/2 chance of being carriers themselves, and a 1/4 chance of being unaffected and a non carrier.

Clinical picture[edit]

Clinically, McKusick–Kaufman syndrome is characterized by a combination of three features: postaxial polydactyly, heart defects, and genital abnormalities:

See also[edit]

External links[edit]


  1. ^ McKusick-Kaufman syndrome at Who Named It?
  2. ^ Abbreviation cited at Genetics Home Reference.
  3. ^ Slavotinek AM, "McKusick-Kaufam Syndrome", GeneReviews, 1993-2015