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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]

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.
Hydrocephalus, congenital, 3, with brain anomalies
MedGen UID:
1648319
Concept ID:
C4747885
Disease or Syndrome
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).

Professional guidelines

PubMed

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

Recent clinical studies

Therapy

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

Prognosis

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
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
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
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
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

Clinical prediction guides

Sasaki Y, Nemoto K, Goto S, Kato E
Pediatr Int 2024 Jan-Dec;66(1):e15734. doi: 10.1111/ped.15734. PMID: 38156509
Costanzo F, Zanni G, Fucà E, Di Paola M, Barresi S, Travaglini L, Colafati GS, Gambardella A, Bellacchio E, Bertini E, Menghini D, Vicari S
Int J Environ Res Public Health 2022 Jan 22;19(3) doi: 10.3390/ijerph19031224. PMID: 35162247Free PMC Article
Schmahmann JD, Weilburg JB, Sherman JC
Cerebellum 2007;6(3):254-67. doi: 10.1080/14734220701490995. PMID: 17786822
Boltshauser E
Am J Med Genet A 2004 May 1;126A(4):376-85. doi: 10.1002/ajmg.a.20662. PMID: 15098235
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

Recent systematic reviews

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

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