Rhombencephalosynapsis

Rhombencephalosynapsis (RES) is a rare brain malformation that affects the cerebellum — the part of the brain at the back of the head that controls balance, coordination, and movement. In this condition, the two halves of the cerebellum (called hemispheres) are fused together instead of being separate, and a structure called the vermis is partially or completely missing. The name comes from 'rhombencephalon,' the medical term for the back part of the brain. There are no widely used synonyms, though it is sometimes abbreviated as RES. This condition is usually present from birth and is most often discovered through brain imaging such as an MRI. The severity varies widely from person to person. Some individuals have mild symptoms, while others face significant challenges with movement, balance, learning, and development. Many children with RES also have problems with eye movement control, and some have additional brain or body abnormalities. There is currently no cure for rhombencephalosynapsis. Treatment focuses on managing symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, and medications to control seizures if they occur. Early intervention and ongoing support can make a meaningful difference in quality of life for those living with this condition.

Bring these to your next appointment

• Q1.How severe is my child's rhombencephalosynapsis, and what does that mean for their development?,Should we pursue genetic testing, and could this condition be inherited or recur in future pregnancies?,What therapies do you recommend, and how often should my child receive them?,Is my child at risk for hydrocephalus, and how will we monitor for it?,What signs should prompt me to seek emergency care?,Are there any clinical trials or research studies we could participate in?,What educational and community support resources are available for our family?

Common questions about Rhombencephalosynapsis