6q16 Microdeletion Syndrome

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

Epidemiology

The disease has been described in five patients.

Etiology

Deletion 6q16 syndrome is due to an interstitial deletion located at 6q16.1q16.2. It is hypothesized that genes SIM1, GRIK2, POPDC3 and MCHR2 located in this region are associated with obesity, autism, cardiac disorders, and hyperphagia and metabolism disorders respectively.