Type : Phenotype or locus, molecular basis unknown;
Included titles and symbols : Dandy-walker malformation; DWM;
Description : 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).;
Inheritance : Isolated cases;
Laboratory abnormalities : Interstitial deletions of 3q, de novo (in some patients);