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Partial absence of cerebellar vermis

MedGen UID:
871190
Concept ID:
C4025667
Congenital Abnormality
HPO: HP:0002951

Definition

Congenital absence of a part of the vermis of cerebellum. [from HPO]

Conditions with this feature

Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Dandy-Walker malformation-postaxial polydactyly syndrome
MedGen UID:
341751
Concept ID:
C1857351
Disease or Syndrome
A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
MedGen UID:
461761
Concept ID:
C3150411
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

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
Nyberg DA, Cyr DR, Mack LA, Fitzsimmons J, Hickok D, Mahony BS
J Ultrasound Med 1988 Feb;7(2):65-71. doi: 10.7863/jum.1988.7.2.65. PMID: 3279226

Recent clinical studies

Etiology

Lin J, Xiao Y, Yao C, Sun L, Wang P, Deng Y, Pu J; DIRECT Consortium, Xue SW
J Psychiatr Res 2024 Mar;171:9-16. Epub 2024 Jan 10 doi: 10.1016/j.jpsychires.2024.01.006. PMID: 38219285
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
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
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
Nyberg DA, Cyr DR, Mack LA, Fitzsimmons J, Hickok D, Mahony BS
J Ultrasound Med 1988 Feb;7(2):65-71. doi: 10.7863/jum.1988.7.2.65. PMID: 3279226

Diagnosis

Lin J, Xiao Y, Yao C, Sun L, Wang P, Deng Y, Pu J; DIRECT Consortium, Xue SW
J Psychiatr Res 2024 Mar;171:9-16. Epub 2024 Jan 10 doi: 10.1016/j.jpsychires.2024.01.006. PMID: 38219285
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
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
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
Poretti A, Boltshauser E, Huisman TAGM
Cerebellum 2016 Feb;15(1):5-9. doi: 10.1007/s12311-015-0699-z. PMID: 26166429

Prognosis

Poretti A, Boltshauser E, Huisman TAGM
Cerebellum 2016 Feb;15(1):5-9. doi: 10.1007/s12311-015-0699-z. PMID: 26166429
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
Cohen MC, Karaman I, Squier W, Farrel T, Whitby EH
Pediatr Dev Pathol 2012 Jan-Feb;15(1):45-9. Epub 2011 Jul 15 doi: 10.2350/10-01-0783-CR.1. PMID: 21762029
Kontopoulos EV, Quintero RA, Salihu HM, Bornick PW, Allen MH
J Matern Fetal Neonatal Med 2008 Nov;21(11):839-42. doi: 10.1080/14767050802302967. PMID: 18979394
von Kaisenberg CS, Caliebe A, Krams M, Hackelöer BJ, Jonat W
Am J Med Genet 2000 Dec 18;95(5):425-8. PMID: 11146460

Clinical prediction guides

Lin J, Xiao Y, Yao C, Sun L, Wang P, Deng Y, Pu J; DIRECT Consortium, Xue SW
J Psychiatr Res 2024 Mar;171:9-16. Epub 2024 Jan 10 doi: 10.1016/j.jpsychires.2024.01.006. PMID: 38219285
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
Miyata M, Miyata H, Mikoshiba K, Ohama E
Acta Neuropathol 1999 Sep;98(3):226-32. doi: 10.1007/s004010051073. PMID: 10483778

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