Craniosynostosis 6
Autoszomális domináns
Caused by a change in one copy of ZIC1, typically in the final part of the gene, which appears to increase rather than remove the protein's activity. It has been found in several affected families.
Tünetek és jelek
Early fusion of the coronal sutures, which changes head shape, with facial differences, in about half of the families studied. Learning disability or developmental delay is common, and some have structural brain differences. Some people with the change have developmental problems without fused sutures.
Mit változtat a diagnózis
Assessment by a craniofacial team, with skull surgery when needed and monitoring for raised pressure inside the skull, alongside developmental and educational support. Children of an affected person may inherit the change, so genetic counselling and parental testing are offered.
Vizsgált gének
Más néven
craniosynostosis caused by mutation in ZIC1; craniosynostosis type 6; CRS6; ZIC1 craniosynostosis
