McKusick-Kaufman Syndrome

Demographics

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.

Signs and symptoms

Many abnormalities associated with MKS are visible in a physical exam. They include the following abnormalities:

• • Limbs: polydactyly (extra fingers or toes)
• • Genitourinary system in females: hydrometrocolpos (accumulation of fluids in the uterus and vagina), transverse vaginal membrane, vaginal atresia (absence of a vagina)
• • Genitourinary system in males: hypospadias (abnormal opening of the urinary tract), prominent scrotal raphe (ridges), micropenis, cryptorchidism (undescended testicles)
• • Cardiac: congenital heart defects
• • Head: pituitary dysplasia (abnormal development of the pituitary gland), choanal atresia (bony or membranous blockage of the passageway between the nose and pharynx), retinitis pigmentosa (overactive cells in the retina of the eye leading to blindness), tracheoesophageal fistula (abnormal passage in the throat region)
• • Skeleton: vertebral anomalies
• • Abdomen: distension, peritoneal cysts, Hirschsprung megacolon (enlarged and poorly functioning large intestine)
• • Other: nonimmune hydrops fetalis (massive build-up of fluids in a fetus or newborn)

Diagnosis

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 abnormalities such as: polydactyly, hydrometrocolpos, a transverse vaginal membrane, vaginal atresia, hypospadias, prominent scrotal raphe, micropenis, cryptorchidism, congenital heart defects, pituitary dysplasia, choanal atresia, tracheo-esophageal fistula, vertebral anomalies, abdominal distension, peritoneal cysts, Hirschsprung megacolon, or nonimmune hydrops fetalis. The probability of a correct diagnosis increases with each additional abnormality present. A diagnosis may sometimes be confirmed with a chromosomal analysis. Abnormal development of the pituitary gland (pituitary dysplasia) and vertebral abnormalities are visible in a CT or MRI scan. Peritoneal cysts are commonly diagnosed by ultrasonography.

Treatment and management

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.

Content licensed from:

Author Info: L. Fleming Fallon Jr., MD, PhD, DrPH, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002

This 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.