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Dysplasia of the superior cerebellar vermis

MedGen UID:
1614217
•Concept ID:
C4539938
•
Anatomical Abnormality
HPO: HP:0033745

Definition

A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysplasia of the superior cerebellar vermis

Recent clinical studies

Etiology

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Cochlear implantation in pontine tegmental cap dysplasia.
Bacciu A, Ormitti F, Pasanisi E, Vincenti V, Zanetti D, Bacciu S
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):962-6. doi: 10.1016/j.ijporl.2010.05.016. PMID: 20627414
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Romano S, Boddaert N, Desguerre I, Hubert L, Salomon R, Seidenwurm D, Bahi-Buisson N, Nabbout R, Sonigo P, Lyonnet S, Brunelle F, Munnich A, de Lonlay P
Neuropediatrics 2006 Feb;37(1):42-5. doi: 10.1055/s-2006-923838. PMID: 16541367
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
Satran D, Pierpont ME, Dobyns WB
Am J Med Genet 1999 Oct 29;86(5):459-69. PMID: 10508989

Diagnosis

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
Wang H, Li S, Li S, Jiang N, Guo J, Zhang W, Zhong M, Xie J
Fetal Pediatr Pathol 2019 Feb;38(1):63-71. Epub 2018 Dec 26 doi: 10.1080/15513815.2018.1538273. PMID: 30585108
A computational framework for the detection of subcortical brain dysmaturation in neonatal MRI using 3D Convolutional Neural Networks.
Ceschin R, Zahner A, Reynolds W, Gaesser J, Zuccoli G, Lo CW, Gopalakrishnan V, Panigrahy A
Neuroimage 2018 Sep;178:183-197. Epub 2018 May 21 doi: 10.1016/j.neuroimage.2018.05.049. PMID: 29793060Free PMC Article
Cerebellar haemorrhage associated with persistent primitive trigeminal artery.
Uzawa A, Aotsuka A, Terano T
J Clin Neurosci 2009 Jan;16(1):152-4. Epub 2008 Nov 14 doi: 10.1016/j.jocn.2008.03.012. PMID: 19013816
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B
J Child Neurol 1997 Oct;12(7):423-30. doi: 10.1177/088307389701200703. PMID: 9373798

Therapy

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E
J Child Neurol 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. PMID: 10385844

Prognosis

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J
Brain 2010 Nov;133(11):3194-209. Epub 2010 Oct 7 doi: 10.1093/brain/awq259. PMID: 20929962
Cochlear implantation in pontine tegmental cap dysplasia.
Bacciu A, Ormitti F, Pasanisi E, Vincenti V, Zanetti D, Bacciu S
Int J Pediatr Otorhinolaryngol 2010 Aug;74(8):962-6. doi: 10.1016/j.ijporl.2010.05.016. PMID: 20627414
Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies.
Lee SK, Kim DI, Kim J, Kim DJ, Kim HD, Kim DS, Mori S
Radiographics 2005 Jan-Feb;25(1):53-65; discussion 66-8. doi: 10.1148/rg.251045085. PMID: 15653586

Clinical prediction guides

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J
Brain 2010 Nov;133(11):3194-209. Epub 2010 Oct 7 doi: 10.1093/brain/awq259. PMID: 20929962
Joubert's syndrome: new cases and review of clinicopathologic correlation.
Sztriha L, Al-Gazali LI, Aithala GR, Nork M
Pediatr Neurol 1999 Apr;20(4):274-81. doi: 10.1016/s0887-8994(98)00154-4. PMID: 10328276

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