McKusick-Kaufman syndrome
Definition
The McKusick-Kaufman syndrome (MKS) is a developmental disorder characterized by a group of conditions that include congenital heart disease, buildup of fluid in the female reproductive tract and extra toes and fingers.
Description
McKusick reported the first case of a disorder which he called hydrometrocolpos syndrome in 1964. Shortly thereafter, Kaufman described another individual with a very similar group of abnormalities. Subsequent writers combined these syndromes into one, calling it the McKusick-Kaufman syndrome and characterizing its wide range of features.
MKS is the first human disorder to be attributed to a mutation occurring in a gene and affecting a type of molecule called a chaperonin....
[The entire page is 1412 words long]
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