Search results
Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups.
Summary. Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome ...
Jun 9, 2022 · The 17q21.31 microdeletion syndrome was discovered in 2006 by three independent research groups. In 2012, it was established that KANSL1 was the causative gene for KdVS. The syndrome is named after Dutch geneticists David A. Koolen and Bert B. A. de Vries, who helped discover the syndrome in 2006 and the KANSL1 gene in 2012. View Full Report ...
Jan 26, 2010 · Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other ...
- David A Koolen, Angela Morgan, Bert Ba de Vries
- 2023/02/02
- 2019
Koolen-De Vries syndrome. A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition ...
DONATE. KDVS Foundation Enriching lives through education, awareness and research. Koolen-de Vries Syndrome is a genetic syndrome caused by a deletion on the 17th chromosome at 17q21.31 or by a mutation of the KANSL1 gene. Find out more about the syndrome.
People also ask
What is Koolen de Vries syndrome?
What is the Koolen-de Vries syndrome Foundation?
What is tracheo/laryngomalacia in Koolen-de Vries syndrome (KdVS)?
What are the symptoms of Koolen de Vries syndrome?
What is the prevalence of Koolen-de Vries syndrome?
Is FTDP-17 a risk factor for Koolen-de Vries syndrome?
Jul 28, 2024 · Koolen-de Vries Syndrome (KdVS) is a multi-system disorder due to a de novo, heterozygous 17q21.31 deletion or pathogenic variant in the KANSL1 gene. 1 KdVS is characterized by neonatal hypotonia, developmental delay, intellectual disability, speech difficulties, 2 epilepsy, 3,4 congenital abnormalities of the heart and/or urogenital system, respiratory problems, ophthalmic issues, facial ...
