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Between one and three percent of the Amish people of Lancaster County, Pennsylvania are believed to be carriers of the disease, having just one copy of the altered gene. The related Bardet-Biedl syndrome is estimated to occur between one in 125,000 and one in 160,000 people. Among an isolated community in Newfoundland, Canada, the prevalence is estimated to be ten times higher.
Many abnormalities associated with MKS are visible in a physical exam. They include the following abnormalities:
A diagnosis of McKusick-Kaufman syndrome is usually made at birth when a newborn is given a post-natal physical exam. The diagnosis is made by noting physical
Treatment of MKS is limited to surgical correction of defects. Timing is often important. Many abnormalities, if uncorrected, can quickly become life threatening. For example, hydrops fetalis is often fatal. Genetic counseling before marriage is recommended for persons who are possible carriers of MKS. Affected rural and Amish girls should be delivered in settings that allow rapid surgical intervention and correction of abnormalities. Such actions could be life saving.
Author Info: L. Fleming Fallon Jr., MD, PhD, DrPH, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002This feature is for informational purposes only and should not be used to replace the care and information received from your healthcare provider. Please consult a healthcare professional with any health concerns you may have.
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