McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling

Abstract

McKusick-Kaufman syndrome is a rare genetic disorder that affects limb development, genital formation, and heart function. It is caused by mutations in the MKKS gene on chromosome 20. Individuals with this condition may have extra fingers or toes, fused labia or undescended testes, and, less commonly, severe heart defects. Diagnosis involves a physical examination and genetic testing, while treatment focuses on symptom management, including surgical intervention if necessary. The prognosis varies depending on the severity of associated complications. In a recent case, a 27-year-old woman with fetal hydrometrocolpos gave birth to a female neonate with extra digits on both hands and feet, fused labia, and a small vaginal opening. The neonate also had a large abdominal cystic mass, and echocardiography revealed a patent foramen ovale. Genetic testing confirmed an MKKS gene mutation, and the hydrometrocolpos required surgical management. Early diagnosis and intervention can improve outcomes for individuals with this syndrome.