Paula and Bobby
Parents of Lillie
Koolen-de Vries syndrome (KDVS)
What is Koolen-de Vries syndrome (KDVS)?
Koolen-de Vries syndrome is a rare genetic condition believed to occur in 1 in every 55,000 people. It is a recently discovered condition, and was first identified in 2006.
Characteristic features of the syndrome include mild-moderate intellectual disability with developmental delay. Low muscle tone in childhood is also a defining symptom of the syndrome.
Individuals with the syndrome are often described as having a sociable, happy personality.
What gene changes cause Koolen-de Vries syndrome (KDVS)?
The syndrome is caused by either a microdeletion of a small part of chromosome 17, or by a mutation of the KANSL1 gene.
The deletions or mutations that cause the syndrome are random and the majority of individuals are the first in their family with the syndrome.
Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
n some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Koolen-de Vries syndrome (KDVS)?
Facial and physical characteristics include a pear-shaped nose, long face, broad forehead, droopy eyelids and very prominent ears.
Other health conditions may include epilepsy, estimated to be a major symptom in 50% of individuals diagnosed with the syndrome.
Heart defects, kidney disease and bone abnormalities are also recognized symptoms in some affected individuals.
How does someone get tested for Koolen-de Vries syndrome (KDVS)?
The initial testing for Koolen-de Vries syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing. ed.
What is FDNA Telehealth?
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