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Dandy-Walker syndrome(DWS)

MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Synonyms: DWS; DWS-Related Dandy Walker Syndrome
SNOMED CT: Dandy-Walker malformation (14447001); Dandy-Walker syndrome (14447001); Dandy-Walker deformity (14447001)
Modes of inheritance:
 
Monarch Initiative: MONDO:0009072
OMIM®: 220200
Orphanet: ORPHA217

Definition

Dandy-Walker malformation (DWM) 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). [from OMIM]

Additional description

From MedlinePlus Genetics
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.

In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. Some children have a buildup of fluid in the brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities. Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition.

Less commonly, other brain abnormalities have been reported in people with Dandy-Walker malformation. These abnormalities include an underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through an opening at the back of the skull (occipital encephalocele), or a failure of some nerve cells (neurons) to migrate to their proper location in the brain during development. These additional brain malformations are associated with more severe signs and symptoms.

Dandy-Walker malformation typically affects only the brain, but problems in other systems can include heart defects, malformations of the urogenital tract, extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or abnormal facial features.

In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. These individuals typically have a different range of features than those affected in infancy, including headaches, an unsteady walking gait, paralysis of facial muscles (facial palsy), increased muscle tone, muscle spasms, and mental and behavioral changes. Rarely, people with Dandy-Walker malformation have no health problems related to the condition.

Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation.  https://medlineplus.gov/genetics/condition/dandy-walker-malformation

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDandy-Walker syndrome

Professional guidelines

PubMed

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Habibi Z, Ebrahimi H, Meybodi KT, Yaghmaei B, Nejat F
World Neurosurg 2021 Feb;146:e1063-e1070. Epub 2020 Nov 24 doi: 10.1016/j.wneu.2020.11.091. PMID: 33246180
Kaiser G, Schut L, James HE, Bruce DA
Mod Probl Paediatr 1976 Sep 30-Oct 2;18:123-4. PMID: 1031844

Recent clinical studies

Etiology

Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy Chaudhary S
J Paediatr Child Health 2023 Jan;59(1):107-115. Epub 2022 Nov 1 doi: 10.1111/jpc.16254. PMID: 36318816
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Constantini S, Sgouros S, Kulkarni A
World Neurosurg 2013 Feb;79(2 Suppl):S23.e1-11. Epub 2012 Feb 10 doi: 10.1016/j.wneu.2012.02.003. PMID: 22381849
Dobyns WB, Truwit CL
Neuropediatrics 1995 Jun;26(3):132-47. doi: 10.1055/s-2007-979744. PMID: 7477752
Fischer EG
J Neurosurg 1973 Nov;39(5):615-21. doi: 10.3171/jns.1973.39.5.0615. PMID: 4743569

Diagnosis

Robinson AJ, Ederies MA
Semin Fetal Neonatal Med 2016 Oct;21(5):312-20. Epub 2016 May 18 doi: 10.1016/j.siny.2016.04.007. PMID: 27209280
Flores-Sarnat L
Handb Clin Neurol 2013;111:369-88. doi: 10.1016/B978-0-444-52891-9.00042-7. PMID: 23622187
Santra G
J Assoc Physicians India 2008 May;56:336. PMID: 18700642
van Dellen JR, Ford MA
S Afr Med J 1978 Jun 17;53(25):1034-6. PMID: 358428
Harbert JC
Semin Nucl Med 1971 Jan;1(1):91-106. PMID: 5097785

Therapy

Osman B, Roushias S, Hargest R, Narahari K
BMJ Case Rep 2017 Nov 8;2017 doi: 10.1136/bcr-2017-220187. PMID: 29122895Free PMC Article
Han H, Critelli K, Davis AW, Squires JE, Fox MD
Pediatr Rev 2017 Oct;38(10):494-495. doi: 10.1542/pir.2016-0140. PMID: 28972056Free PMC Article
Williams AJ, Wang Z, Taylor SF
Neurocase 2016 Oct;22(5):472-475. Epub 2016 Sep 23 doi: 10.1080/13554794.2016.1237657. PMID: 27662527
Constantini S, Sgouros S, Kulkarni A
World Neurosurg 2013 Feb;79(2 Suppl):S23.e1-11. Epub 2012 Feb 10 doi: 10.1016/j.wneu.2012.02.003. PMID: 22381849
van Dellen JR, Ford MA
S Afr Med J 1978 Jun 17;53(25):1034-6. PMID: 358428

Prognosis

Healy MD, McNally KE, Butkovič R, Chilton M, Kato K, Sacharz J, McConville C, Moody ERR, Shaw S, Planelles-Herrero VJ, Yadav SKN, Ross J, Borucu U, Palmer CS, Chen KE, Croll TI, Hall RJ, Caruana NJ, Ghai R, Nguyen THD, Heesom KJ, Saitoh S, Berger I, Schaffitzel C, Williams TA, Stroud DA, Derivery E, Collins BM, Cullen PJ
Cell 2023 May 11;186(10):2219-2237.e29. doi: 10.1016/j.cell.2023.04.003. PMID: 37172566Free PMC Article
Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy Chaudhary S
J Paediatr Child Health 2023 Jan;59(1):107-115. Epub 2022 Nov 1 doi: 10.1111/jpc.16254. PMID: 36318816
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Williams AJ, Wang Z, Taylor SF
Neurocase 2016 Oct;22(5):472-475. Epub 2016 Sep 23 doi: 10.1080/13554794.2016.1237657. PMID: 27662527
Fischer EG
J Neurosurg 1973 Nov;39(5):615-21. doi: 10.3171/jns.1973.39.5.0615. PMID: 4743569

Clinical prediction guides

Healy MD, McNally KE, Butkovič R, Chilton M, Kato K, Sacharz J, McConville C, Moody ERR, Shaw S, Planelles-Herrero VJ, Yadav SKN, Ross J, Borucu U, Palmer CS, Chen KE, Croll TI, Hall RJ, Caruana NJ, Ghai R, Nguyen THD, Heesom KJ, Saitoh S, Berger I, Schaffitzel C, Williams TA, Stroud DA, Derivery E, Collins BM, Cullen PJ
Cell 2023 May 11;186(10):2219-2237.e29. doi: 10.1016/j.cell.2023.04.003. PMID: 37172566Free PMC Article
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy Chaudhary S
J Paediatr Child Health 2023 Jan;59(1):107-115. Epub 2022 Nov 1 doi: 10.1111/jpc.16254. PMID: 36318816
Dobyns WB, Truwit CL
Neuropediatrics 1995 Jun;26(3):132-47. doi: 10.1055/s-2007-979744. PMID: 7477752
Nyberg DA, Mahony BS, Hegge FN, Hickok D, Luthy DA, Kapur R
Obstet Gynecol 1991 Mar;77(3):436-42. PMID: 1992413

Recent systematic reviews

Stambolliu E, Ioakeim-Ioannidou M, Kontokostas K, Dakoutrou M, Kousoulis AA
J Child Neurol 2017 Sep;32(10):886-902. Epub 2017 Jun 21 doi: 10.1177/0883073817712589. PMID: 28635420
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099
Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z
BMC Med Genet 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4. PMID: 25896430Free PMC Article

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