Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Kimberly A. Aldinger, Jennifer C. Dempsey, Hannah M. Tully, Megan E. Grout, Michele G. Mehaffey, William B. Dobyns, Dan Doherty

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations


Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial features (prominent forehead, flat midface, hypertelorism, ear abnormalities), and somatic malformations (heart, kidney, spine, and limb defects). Similar to known genetic brain malformations, the RES cerebellar malformation is highly stereotyped, yet no genetic causes have been identified. Here, we outline our current understanding of the genetic basis for RES, discuss limitations, and outline future approaches to identifying the causes of this fascinating brain malformation.

Original languageEnglish (US)
Pages (from-to)432-439
Number of pages8
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number4
StatePublished - Dec 2018
Externally publishedYes

Bibliographical note

Funding Information:
information National Human Genome Research Institute, Grant/Award Number: U54HG006493; National Institute of Child Health and Human Development, Grant/Award Number: U54HD083091; National Institute of Neurological Disorders and Stroke, Grant/Award Number: R01NS050375

Publisher Copyright:
© 2018 Wiley Periodicals, Inc.


  • RES
  • cerebellum
  • genetics
  • neuroimaging


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