This website provides information on patients with mutations in the ARCN1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ARCN1 gene is a multisystem disorder characterized by micrognathia, Pierre Robin sequence, cleft palate, facial dysmorphisms, intrauterine growth retardation, short stature, and mild developmental delay. Not all individuals with a mutation in the ARCN1 gene have every feature.

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 ARCN1 gene.

Kosuke Izumi, MD, PhD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, USA, izumik1@email.chop.edu

Alyssa Ritter, MS, LCGC, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, USA, rittera@email.chop.edu