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Fusion of the cerebellar hemispheres

MedGen UID:
356159
•Concept ID:
C1866131
•
Finding
HPO: HP:0006899

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFusion of the cerebellar hemispheres

Conditions with this feature

Gomez Lopez Hernandez syndrome
MedGen UID:
163201
•Concept ID:
C0795959
•
Disease or Syndrome
Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia. However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).
See: Condition Record
Gomez Lopez Hernandez syndrome

Professional guidelines

PubMed

Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916

Recent clinical studies

Etiology

Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Alternations of interhemispheric functional connectivity in children with strabismus and amblyopia: a resting-state fMRI study.
Peng J, Yao F, Li Q, Ge Q, Shi W, Su T, Tang L, Pan Y, Liang R, Zhang L, Shao Y
Sci Rep 2021 Jul 23;11(1):15059. doi: 10.1038/s41598-021-92281-1. PMID: 34301967Free PMC Article
Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Brain abnormalities in infantile esotropia as predictor for consecutive exotropia.
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Characteristics of Hemorrhagic Stroke following Spine and Joint Surgeries.
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article

Diagnosis

Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. PMID: 30580482Free PMC Article
Characteristics of Hemorrhagic Stroke following Spine and Joint Surgeries.
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article
An integrative molecular and genomic analysis of pediatric hemispheric low-grade gliomas: an update.
Lassaletta A, Zapotocky M, Bouffet E, Hawkins C, Tabori U
Childs Nerv Syst 2016 Oct;32(10):1789-97. Epub 2016 Sep 20 doi: 10.1007/s00381-016-3163-6. PMID: 27659822

Therapy

Primary spinal multifocal intradural-extramedullary Ewing sarcoma in children: presentation of a case and review of the literature.
Müngen E, Kurucu N, Kutluk T, Oğuz KK, Söylemezoğlu F, Yalçın B
Turk J Pediatr 2021;63(6):1084-1090. doi: 10.24953/turkjped.2021.06.018. PMID: 35023660
Alternations of interhemispheric functional connectivity in children with strabismus and amblyopia: a resting-state fMRI study.
Peng J, Yao F, Li Q, Ge Q, Shi W, Su T, Tang L, Pan Y, Liang R, Zhang L, Shao Y
Sci Rep 2021 Jul 23;11(1):15059. doi: 10.1038/s41598-021-92281-1. PMID: 34301967Free PMC Article
Characteristics of Hemorrhagic Stroke following Spine and Joint Surgeries.
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerrière A
Acta Neuropathol 2009 Feb;117(2):185-200. Epub 2008 Dec 5 doi: 10.1007/s00401-008-0469-9. PMID: 19057916
Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case.
Michaud J, Mizrahi EM, Urich H
Acta Neuropathol 1982;56(3):161-6. doi: 10.1007/BF00690631. PMID: 7072487

Prognosis

Primary spinal multifocal intradural-extramedullary Ewing sarcoma in children: presentation of a case and review of the literature.
Müngen E, Kurucu N, Kutluk T, Oğuz KK, Söylemezoğlu F, Yalçın B
Turk J Pediatr 2021;63(6):1084-1090. doi: 10.24953/turkjped.2021.06.018. PMID: 35023660
Brain abnormalities in infantile esotropia as predictor for consecutive exotropia.
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Characteristics of Hemorrhagic Stroke following Spine and Joint Surgeries.
Yang F, Zhao J, Xu H
Biomed Res Int 2017;2017:5390839. Epub 2017 Jan 10 doi: 10.1155/2017/5390839. PMID: 28164124Free PMC Article
An integrative molecular and genomic analysis of pediatric hemispheric low-grade gliomas: an update.
Lassaletta A, Zapotocky M, Bouffet E, Hawkins C, Tabori U
Childs Nerv Syst 2016 Oct;32(10):1789-97. Epub 2016 Sep 20 doi: 10.1007/s00381-016-3163-6. PMID: 27659822
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. PMID: 22451504Free PMC Article

Clinical prediction guides

Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report.
Schutter DJLG, Doherty D, Phillips JO, Weiss AH, Maas RPPWM
Cerebellum 2024 Dec;23(6):2671-2678. Epub 2024 Sep 4 doi: 10.1007/s12311-024-01740-8. PMID: 39230845Free PMC Article
Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA
J Neuropathol Exp Neurol 2020 Sep 1;79(9):998-1010. doi: 10.1093/jnen/nlaa062. PMID: 32827036Free PMC Article
Brain abnormalities in infantile esotropia as predictor for consecutive exotropia.
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Partial rhombencephalosynapsis.
Demaerel P, Morel C, Lagae L, Wilms G
AJNR Am J Neuroradiol 2004 Jan;25(1):29-31. PMID: 14729524Free PMC Article

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