" /> Dandy-walker syndrome - CISMeF





Preferred Label : Dandy-walker syndrome;

Symbol : DWS;

CISMeF acronym : DWM; DWS;

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);

Prefixed ID : %220200;

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27/07/2025


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