What is rhombencephalosynapsis?
Rhombencephalosynapsis (RES) is a sporadic cerebellar malformation characterized by partial or complete absence of the cerebellar vermis and apparent fusion of the cerebellar hemispheres. RES can be seen in isolation or in combination with other brain malformations and malformations outside the nervous system.
Gómez-López-Hernández syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and sometimes trigeminal anesthesia, towering skull shape and dysmorphic features. RES can also be seen in patients with features of VACTERL association.
Other features that have been associated with RES include (but are not limited to):
- Craniofacial dysmorphology including midface hypoplasia, hypertelorism, high forehead, low posteriorly-rotated ears, and cleft lip/palate.
- Parietal/temporal alopecia and/or globally thin hair.
- Developmental delay and/or intellectual impairment
- Trigeminal anesthesia (facial and eye numbness)
- Other brain malformations such as hydrocephalus, aqueductal stenosis, and ventriculomegaly
- Eye abnormalities including strabismus and nystagmus
- Poor suck/swallow reflex, failure to thrive
- Head rolling/rocking
- Seizures
- Sleep apnea
- Small size
- Hyperactivity and other behavioral disorders
