3C syndrome

The Ritscher - Schinzel syndrome is a variant of a Dandy- Walker malformation (DWM or engl. DWS ) known malformation, also known as 3C syndrome or CCC dysplasia ( craniocerebellocardiac dysplasia ) is called. Since its initial description of at least 20 cases have been reported and published. It is a malformation of the heart with cerebellar hypoplasia and Kranialdysmorphie. The reason the homozygous state of a recessive autosomal gene is suspected. The molecular basis is still unknown.