This website provides information on individuals with ZIC1-related craniosynostosis (OMIM#616602, allelic with OMIM#618736 – structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS)) including clinical data, molecular data, management and research options.
The syndrome is caused by isolated mutations in the ZIC1 gene, which encodes a transcription factor implicated in vertebrate brain and skeletal development. Note that this is distinct from 3q22-q24 deletions encompassing both ZIC1 and ZIC4 that are associated with isolated Dandy Walker malformation.
The most characteristic features in this multisystem disorder are craniosynostosis and structural brain malformations associated with variable learning disability.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ZIC1 gene.
Steve Twigg, PhD, University of Oxford, Oxford, UK, Stephen.firstname.lastname@example.org
Andrew Wilkie, MD, DM, University of Oxford, Oxford, UK, Andrew.email@example.com
Debbie Shears, MD, PhD, University of Oxford, Oxford, UK, Debbie.firstname.lastname@example.org