McKusick-Kaufman Syndrome Health Article

Prognosis

With appropriate genetic counseling and complete family histories, individuals born with MKS can receive prompt treatment. With rapid initial surgical intervention, most of these persons can live relatively normal lives. Some abnormalities, such as hypospadias, vaginal atresia, choanal atresia, tracheo-esophageal fistula, or Hirschsprung megacolon, may require multiple operations. Due to the risk of retinitis pigmentosa, vision should be monitored closely.

BOOKS

Duckett, John W. "Hypospadias." In Campbell's Urology. Walsh, P. C. et al., eds W. B. Saunders, Philadelphia, 1998.

McKusick, Victor A. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th ed. Johns Hopkins University Press, Baltimore, 1998.

Nelson, Waldo E., et al., eds. "Anomalies of the penis and urethra." In Nelson Textbook of Pediatrics. W. B. Saunders, Philadelphia, 2000.

PERIODICALS

David, A., et al. "Hydrometrocolpos and polydactyly: A common neonatal presentation of Bardet-Biedel and McKusick-Kaufman syndromes." Journal of Medical Genetics 36 (1999):599-603

Slavotinek, A. M., and L. G. Biesecker. "Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedel syndrome: A literature review." American Journal of Medical Genetics 95 (2000): 208-215

ORGANIZATIONS

Hypospadias Association of America. 4950 S. Yosemite Street, Box F2-156, Greenwood Village, CO 80111. hypospadiasassn@yahoo.com. <http://www.hypospadias.net>.

National Institutes of Health, Office of Rare Diseases. 31 Center Dr., Bldg. 31, Room 1B-19, MSC 2084, Bethesda, MD 20892-2084. (301) 402-4336. Fax: (301) 480-9655. hh70f@nih.gov. <http://rarediseases.info.nih.gov/ord>.

Support for Parents with Hypospadias Boys. <http://clubs.yahoo.com/clubs/mumswithhypospadiaskids>.

WEBSITES

"Hypospadias." Atlas of Congenital Deformities of the External Genitalia. <http://www.atlasperovic.com/contents/9.htm>.

"Hypospadias." The Penis.com. <http://www.the-penis.com/hypospadias.html>.

Society for Pediatric Urology. <http://www.spu.org/>.

L. Fleming Fallon. Jr., MD, PhD, DrPH