Dandy-Walker malformation

Dandy-Walker malformation is defined by cerebellar vermis hypoplasia with upward rotation and cystic dilation of the fourth ventricle. Dandy-Walker malformation is a common but poorly understood congenital cerebellar malformation in humans.

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.

Synopsis

 partial or complete absence of cerebellar vermis
 cystic dilation of the fourth ventricle (dilated fourth ventricle)
 hydrocephalus
 bulging occiput
 cranial nerve palsies
 nystagmus
 truncal ataxia

Radiology

 elevated imprint of the transverse sinuses
 thinning and bulging of posterior fossa bones
 posterior fossa cyst at the fourth ventricle

Etiology

 isolated Dandy-Walker malformation (nonsyndromal DWM) (MIM.220200)

• autosomal recessive inheritance (3q24)

 ZIC1-ZIC4 heterozygous deletion at 3q2 (15338008)

 genetic metabolic diseases

• congenital disorder of glycosylation type 2d (CDG type 2d, CDG IId) (MIM.607091)

 associated Dandy-Walker malformation

• syndromal Dandy-Walker malformation
  • Meckel syndromes (15503488, 10649795, 8905203, 8867663, 8368252, 2063927, 1867280) (MIM.249000)
  • Fryns syndrome (MIM.229850)
  • PHACE association (MIM.606519)
  • MVA syndrome (mosaic variegated aneuploidy syndrome) (MIM.257300)
  • Coffin-Siris syndrome (MIM.135900)
  • Ellis-van Creveld syndrome (EVC at 4p16) (MIM.225500)
  • association mesomelic campomelia, postaxial polydactyly and Dandy-Walker cyst (11360278)
  • oculocerebrocutaneous syndrome (MIM.164180)

• other associations
  • DWM with atrioventricular septal defect (ASD) (MIM.220210)
  • DWM with sagittal craniosynostosis and hydrocephalus (MIM.123155)
  • DWM with mental retardation, macrocephaly, myopia and brahytelephalangy (MIM.220219)
  • DWM with postaxial polydactyly (MIM.220220)
  • DWM with CHiari malformation type 1 (MIM.118420)
  • DWM with renal-hepatic-pancreatic dysplasia (MIM.267010)
  • DWM with mental retardation, basal ganglia disease and seizures (MIM.304440)