This website provides information on individuals with Koolen-de Vries syndrome (KdVS, OMIM #610443), including clinical data, molecular data, management and research options. The Koolen-de Vries syndrome, also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder. The syndrome is either caused by a microdeletion in chromosomal region 17q21.31 or by a mutation in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene, involved in global transcription by histone modification. The syndrome is a multisystem disorder characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system. It is of note that not all features are present in all individuals with KdVS. This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of individuals with KdVS.
Developmental delay/ intellectual disability, seizure disorder, infantile hypotonia, white matter changes in the brain and subtle facial features.
Not all individuals with a mutation in the KANSL1 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 KANSL1 gene.