Paula and Bobby
Parents of Lillie
Basel Vanagaite Smirin Yosef syndrome (BVSYS)
What is Basel Vanagaite Smirin Yosef syndrome (BVSYS)?
This rare disease is a genetic, psychomotor condition that affects the eyes and brain
First identified in Brazil, it is named for the researchers in Israel who furthered the understanding of the condition.
The main symptoms of the syndrome include intellectual disability, seizures, heart defects and issues with the eyes.
What gene changes cause Basel Vanagaite Smirin Yosef syndrome (BVSYS)?
Mutations in the MED25 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Basel Vanagaite Smirin Yosef syndrome (BVSYS)?
Intellectual disability is a major symptom of the condition. Other health conditions related to the syndrome include seizures and heart defects.
The syndrome affects the eyes of individuals and these unique features may include widely spaced eyes, drooping upper eyelids, a squint and sparse eyebrows. Cataracts are also an issue.
Other physical features of the condition can include a cleft palate, sparse hair, small head, thin skin and a short philtrum.
How does someone get tested for Basel Vanagaite Smirin Yosef syndrome (BVSYS)?
The initial testing for Basel Vanagaite Smirin Yosef syndrome 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.
What is FDNA Telehealth?
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