This website provides information on individuals with Blackmore-Durmaz-Vasileiou syndrome (BDV syndrome, OMIM #619326) including clinical data, molecular data, management and research options.

BDV syndrome is a novel autosomal recessive genetic entity caused by biallelic loss-of-function mutations in the CPE gene. Main clinical manifestations include neurodevelopmental delay/intellectual disability, childhood-onset morbid obesity and hyperphagia. Other endocrine anomalies are also common among the affected individuals. The clinical presentation in early and late childhood resembles Prader-Willi syndrome.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with mutations in the CPE gene.

Georgia Vasileiou, MD, PhD, Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany

Elisabeth Bosch, PhD, Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany