Koolen De Vries Syndrom. [PDF] The Koolende Vries syndrome a phenotypic comparison of patients with a 17q21.31 Oral hypotonia and apraxia in infancy and preschool, associated with severely delayed speech development is one of the hall marks of KdVS The genetic change occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development.
Koolen de Vries Syndrom Deutschland Mikrodeletion 17q21.31.31 Über uns from www.koolen-de-vries-deutschland.de
The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Koolen-de Vries Syndrome Foundation maintains a confidential database of KdVS families from around the world
Koolen de Vries Syndrom Deutschland Mikrodeletion 17q21.31.31 Über uns
Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder This deletion syndrome was discovered independently in 2006 by three different research groups. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability.
How is Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome diagnosed?. Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features The majority of individuals with Koolen-de Vries syndrome (KdVS) function in the mild to moderate range of intellectual disability
Koolen de Vries Syndrom Deutschland Mikrodeletion 17q21.31.31 Über uns. Frequent features in individuals with this condition include feeding problems in infancy, muscle weakness (hypotonia) in young children, developmental problems, language/speech delay, learning disabilities and mild to moderate intellectual disability, epilepsy. This database allows us to help families make connections in their geographic areas, understand where the KdVS community resides and share with our Medical Advisory Board the number of individuals registered