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Cerebellar agenesis

MedGen UID:: 868414
•Concept ID:: C4022808
•: Congenital Abnormality

Synonym:	cerebellar agenesis

HPO:	HP:0012642
Monarch Initiative:	MONDO:0022685

Definition

Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCerebellar agenesis

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Morphological central nervous system abnormality
      - Aplasia/Hypoplasia involving the central nervous system
        Aplasia/Hypoplasia of the cerebellum
        Cerebellar agenesis

Conditions with this feature

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

MedGen UID:: 332288
•Concept ID:: C1836780
•: Disease or Syndrome

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

See: Condition Record

Hydrocephalus, congenital, 3, with brain anomalies

MedGen UID:: 1648319
•Concept ID:: C4747885
•: Disease or Syndrome

See: Condition Record

Endove syndrome, limb-brain type

MedGen UID:: 1782954
•Concept ID:: C5543142
•: Disease or Syndrome

Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem (Allou et al., 2021).

See: Condition Record

Endove syndrome, limb-brain type

Hydrocephalus, congenital, 3, with brain anomalies

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Professional guidelines

PubMed

Meningoencephalocele associated with Tripterygium wilfordii treatment.

Takei A, Nagashima G, Suzuki R, Hokaku H, Takahashi M, Miyo T, Asai J, Sanada Y, Fujimoto T
Pediatr Neurosurg 1997 Jul;27(1):45-8. doi: 10.1159/000121224. PMID: 9486836

See all (1)

Recent clinical studies

Etiology

Cerebellar injury in preterm infants less than 28 weeks gestational age.

Sasaki Y, Nemoto K, Goto S, Kato E
Pediatr Int 2024 Jan-Dec;66(1):e15734. doi: 10.1111/ped.15734. PMID: 38156509

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.

Bolduc ME, Limperopoulos C
Dev Med Child Neurol 2009 Apr;51(4):256-67. Epub 2009 Feb 3 doi: 10.1111/j.1469-8749.2008.03224.x. PMID: 19191827

The neuropsychiatry of the cerebellum - insights from the clinic.

Schmahmann JD, Weilburg JB, Sherman JC
Cerebellum 2007;6(3):254-67. doi: 10.1080/14734220701490995. PMID: 17786822

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions.

Boltshauser E
Am J Med Genet A 2004 May 1;126A(4):376-85. doi: 10.1002/ajmg.a.20662. PMID: 15098235

Vanishing cerebellum in myelomeningocoele.

Boltshauser E, Schneider J, Kollias S, Waibel P, Weissert M
Eur J Paediatr Neurol 2002;6(2):109-13. doi: 10.1053/ejpn.2001.0556. PMID: 11995957

See all (10)

Diagnosis

Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury.

Poretti A, Boltshauser E, Huisman TA
Neuroimaging Clin N Am 2016 Aug;26(3):359-72. doi: 10.1016/j.nic.2016.03.006. PMID: 27423799

Cerebellar disruptions and neurodevelopmental disabilities.

Bosemani T, Poretti A
Semin Fetal Neonatal Med 2016 Oct;21(5):339-48. Epub 2016 May 12 doi: 10.1016/j.siny.2016.04.014. PMID: 27184462

Morphological spectrum of prenatal cerebellar disruptions.

Poretti A, Prayer D, Boltshauser E
Eur J Paediatr Neurol 2009 Sep;13(5):397-407. Epub 2008 Oct 22 doi: 10.1016/j.ejpn.2008.09.001. PMID: 18945628

Cerebellar agenesis.

Titomanlio L, Romano A, Del Giudice E
Neurology 2005 Mar 22;64(6):E21. doi: 10.1212/wnl.64.6.e21. PMID: 15781801

Cerebellar agenesis and diabetes insipidus.

Zafeiriou DI, Vargiami E, Boltshauser E
Neuropediatrics 2004 Dec;35(6):364-7. doi: 10.1055/s-2004-830369. PMID: 15627945

See all (21)

Therapy

Absence of associative motor learning and impaired time perception in a rare case of complete cerebellar agenesis.

Wu B, Yao J, Wu GY, Li X, Gao WJ, Zhang RW, Sui JF
Neuropsychologia 2018 Aug;117:551-557. Epub 2018 Jul 18 doi: 10.1016/j.neuropsychologia.2018.07.021. PMID: 30031016

Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy.

Afadapa FK, Elsapagh K
J Obstet Gynaecol 2006 Aug;26(6):581-2. doi: 10.1080/01443610600830946. PMID: 17000518

Meningoencephalocele associated with Tripterygium wilfordii treatment.

Takei A, Nagashima G, Suzuki R, Hokaku H, Takahashi M, Miyo T, Asai J, Sanada Y, Fujimoto T
Pediatr Neurosurg 1997 Jul;27(1):45-8. doi: 10.1159/000121224. PMID: 9486836

See all (3)

Prognosis

Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury.

Poretti A, Boltshauser E, Huisman TA
Neuroimaging Clin N Am 2016 Aug;26(3):359-72. doi: 10.1016/j.nic.2016.03.006. PMID: 27423799

Cerebellar disruptions and neurodevelopmental disabilities.

Bosemani T, Poretti A
Semin Fetal Neonatal Med 2016 Oct;21(5):339-48. Epub 2016 May 12 doi: 10.1016/j.siny.2016.04.014. PMID: 27184462

Morphological spectrum of prenatal cerebellar disruptions.

Poretti A, Prayer D, Boltshauser E
Eur J Paediatr Neurol 2009 Sep;13(5):397-407. Epub 2008 Oct 22 doi: 10.1016/j.ejpn.2008.09.001. PMID: 18945628

Dexterity in cerebellar agenesis.

Nowak DA, Timmann D, Hermsdörfer J
Neuropsychologia 2007 Mar 2;45(4):696-703. Epub 2006 Sep 18 doi: 10.1016/j.neuropsychologia.2006.08.011. PMID: 16979674

Vanishing cerebellum in myelomeningocoele.

Boltshauser E, Schneider J, Kollias S, Waibel P, Weissert M
Eur J Paediatr Neurol 2002;6(2):109-13. doi: 10.1053/ejpn.2001.0556. PMID: 11995957

See all (5)

Clinical prediction guides

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH
Ann Neurol 2024 Nov;96(5):914-931. Epub 2024 Jul 29 doi: 10.1002/ana.27037. PMID: 39073169 Free PMC Article

Cerebellar injury in preterm infants less than 28 weeks gestational age.

Sasaki Y, Nemoto K, Goto S, Kato E
Pediatr Int 2024 Jan-Dec;66(1):e15734. doi: 10.1111/ped.15734. PMID: 38156509

The neuropsychiatry of the cerebellum - insights from the clinic.

Schmahmann JD, Weilburg JB, Sherman JC
Cerebellum 2007;6(3):254-67. doi: 10.1080/14734220701490995. PMID: 17786822

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions.

Boltshauser E
Am J Med Genet A 2004 May 1;126A(4):376-85. doi: 10.1002/ajmg.a.20662. PMID: 15098235

Cerebellar agenesis: clinical, neuropsychological and MR findings.

Timmann D, Dimitrova A, Hein-Kropp C, Wilhelm H, Dörfler A
Neurocase 2003 Oct;9(5):402-13. doi: 10.1076/neur.9.5.402.16555. PMID: 14972755

See all (13)