ZNF462

This website provides information on patients with mutations in the ZNF462gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ZNF462gene (Weiss-Kruszka syndrome) is a multisystem disorder characterised by drooping of the upper eyelids (ptosis), a prominent ridge or premature fusion of the forehead (metopic) suture, a recognisable pattern of facial features, and variable developmental delay. Many children also have autistic features, reduced muscle tone (hypotonia), and feeding difficulties in infancy. Some individuals have differences in the corpus callosum (the band of fibres connecting the two halves of the brain), differences in the shape of the ears or hearing, and congenital heart defects.

Not all individuals with a mutation in the ZNF462gene have these features. The features and their severity vary considerably, even between affected members of the same family.

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 ZNF462gene.

Himanshu Goel, MBBS, MD, DM, FRACP, Hunter Genetics, Hunter New England Local Health District; conjoint appointment, School of Medicine and Public Health, University of Newcastle, Waratah / Newcastle, New South Wales, Australia, himanshu.goel@health.nsw.gov.au
Anna Hau, MBBS, DCh, Hunter New England Local Health District, Waratah / Newcastle, New South Wales, Australia, anna.hau@health.nsw.gov.au