McKusick Kaufman syndrome
McKusick Kaufman Syndrome
McKusick Kaufman Syndrome (pronounced: məˈkjuːsɪk ˈkɔːfmən sinˈdrəʊm), also known as MKKS, is a rare genetic disorder characterized by hydrometrocolpos, polydactyly, and congenital heart disease. The syndrome is named after the American physicians Victor A. McKusick and Bernard Kaufman, who first described the condition in 1965.
Etymology
The term "McKusick Kaufman Syndrome" is derived from the names of the two physicians who first identified and described the condition. Victor A. McKusick was a pioneering geneticist and Bernard Kaufman was a pediatrician. Both were based at the Johns Hopkins Hospital in Baltimore, Maryland, USA.
Symptoms
The primary symptoms of McKusick Kaufman Syndrome include hydrometrocolpos, polydactyly, and congenital heart disease. Hydrometrocolpos is a condition in which fluid accumulates in the vagina and uterus of a female fetus or newborn. Polydactyly refers to the presence of extra fingers or toes. Congenital heart disease involves one or more problems with the heart's structure that exist since birth.
Genetics
McKusick Kaufman Syndrome is caused by mutations in the MKKS gene. This gene provides instructions for making a protein that is involved in the formation of cilia, which are microscopic, finger-like projections that stick out from the surface of cells. The MKKS gene mutations that cause McKusick Kaufman Syndrome result in the production of an abnormal protein that disrupts the normal function of cilia.
Diagnosis
Diagnosis of McKusick Kaufman Syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the MKKS gene.
Treatment
Treatment for McKusick Kaufman Syndrome is symptomatic and supportive. This may include surgery to correct polydactyly or congenital heart defects, and management of hydrometrocolpos.
See also
External links
- Medical encyclopedia article on McKusick Kaufman syndrome
- Wikipedia's article - McKusick Kaufman syndrome
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