General information

DeSanto-Shinawi syndrome (MIM #616708) is a genetic neurodevelopmental disorder caused by mutations in the WAC gene located on chromosome 10.

Main clinical features

The subsequent clinical phenotype consist of neonatal hypotonia and feeding difficulties, variable degrees of developmental delay/intellectual disability, behavioural abnormalities as well as suggestive characteristic facial features. Several of the reported patients have been reported to have constipation as well as variable vision and respiratory problems.

Prevalence

 The prevalence of the disorder is yet unknown.

Inheritance

The disorder is inherited in an autosomal dominant manner. All patients reported to date, do have the disorder as a result of a de novo loss-of-function mutation in the WAC gene.