Genitopatellar Syndrome

Genitopatellar Syndrome

Genitopatellar syndrome is a rare genetic disorder characterised by genital abnormalities, knee abnormalities, intellectual disability, and distinct facial features. This syndrome is caused by mutations in the KAT6B gene. Symptoms of genitopatellar syndrome vary but often include limited joint mobility and skeletal anomalies. Early diagnosis and supportive care are crucial for managing genitopatellar syndrome effectively.