Koolen–De Vries syndrome
Rare genetic disorder from 17q21.31 microdeletion, discovered in 2006.
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Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder often caused by a deletion of a segment of chromosome 17 containing six genes, notably including KANSL1, though other mutations affecting KANSL1 can also cause it. The syndrome was independently discovered in 2006 by three different research groups and is now recognized as one of the more common recurrent microdeletion syndromes.
Background
Symptoms are variable but common features include low birthweight, low muscle tone at birth, poor feeding in infancy often requiring tube feeding, oromotor dyspraxia, moderate developmental delays, learning disabilities, and amiable behavior. Other features include epilepsy, heart defects (atrial septal defect, ventricular septal defect), kidney/urological anomalies, silvery depigmentation of strands of hair, and coarsening of facial features with age. Diagnosis is established with chromosome microarray analysis, and treatment centers on individual symptoms.
Did You Know?
- Silvery depigmentation of strands of hair has been noted in several patients.
Frequently Asked Questions
What is Koolen–De Vries syndrome known for?
On the 'character sheet,' KdVS presents with low muscle tone, feeding difficulties in infancy, and developmental delays as core traits. Additional features can include epilepsy, congenital heart defects, kidney or urinary-tract anomalies, and a notably friendly, amiable temperament.
What's the origin story of Koolen–De Vries syndrome?
Three separate research teams identified the condition independently in 2006, including Dutch geneticists David A. Koolen and Bert B. A. de Vries, after whom the syndrome is named. The concurrent discoveries across groups quickly cemented it as a distinct diagnostic entity.
More in Genetic anomalies
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Koolen–De Vries syndrome (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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