Rhombencephalosynapsis

What it means

Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.

Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome.

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category