Paula and Bobby
Parents of Lillie
Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal
What is Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal?
Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal is a rare disease. It is also known as Guarisco-Winters syndrome.
This condition named by the authors Winters and Guarsco (2012, the Guarisco-Winters syndrome, might not be too different from BOR, but the case descibed was unusual and no mutations were found in the BOR genes, It refers to a child with a draining punctumin the anterior part of the neck. There was also a pre-auricular pinctum and another on the right side of the foot and one in the calf. They all drained periodically a mucoid material and would become infected. She aso had a VSD and an ASD and had had a nephrectomy (reason not given) and the ureters were reimplanted. Development was normal.
* This information is courtesy of the L M D.
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What gene changes cause Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In 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 that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal?
The typical symptoms of the syndrome are:
How does someone get tested for Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal?
The initial testing for Branchial Cleft Anomalies - Dermal Fistula in Legs - Cardiac - Renal can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
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