Paula and Bobby
Parents of Lillie
Burn-Mckeown syndrome (BMKS)
What is Burn-Mckeown syndrome (BMKS)?
This rare disease is a rare genetic, congenital condition. Many of its symptoms are present at birth.
The most obvious symptom of this syndrome is the blockage of an affected individual's nasal passages at birth.
Unique facial features and hearing loss, of varying degrees are also common with the syndrome.
What gene changes cause Burn-Mckeown syndrome (BMKS)?
Changes to the TXNL4A 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 Burn-Mckeown syndrome (BMKS)?
The most serious feature of the syndrome relates to the narrowing or complete blockage of an individual's nasal passages at birth. As this symptom can seriously affect an infant’s ability to breathe, surgery is often required to correct it.
Unique facial features of the syndrome include narrow eyelid openings and a gap in the lower eyelids, as well as widely spaced eyes. Other characteristics include a large nasal bridge, large ears and a small mouth.
Individuals may be born with hearing loss in both ears, although the extent and severity of this loss varies between individuals.
Heart abnormalities are also common with the syndrome, most frequently PDA, or patent ductus arteriosus.
How does someone get tested for Burn-Mckeown syndrome (BMKS)?
The initial testing for Burn-Mckeown 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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