This website provides information on patients with mutations in the CTNND1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CTNND1 gene is a multisystem disorder, characterized by eyelid malformations, cleft lip with or without cleft palate, and ectodermal dysplasia. Not all individuals with a mutation in the CTNND1 gene have these features.

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 CTNND1 gene causing developmental disorders.

Jamal Ghoumid, Assistant Professor, MD, PhD, Lille University Hospital, Lille, France, jamal.ghoumid@chru-lille.fr

Sylvie Manouvrier, Professor, MD, PhD, Lille University Hospital, Lille, France, sylvie.manouvrier@chru-lille.fr