Paula and Bobby
Parents of Lillie
Alagille-Like syndrome - Ar
What is Alagille-Like syndrome - Ar?
Alagille-Like syndrome - Ar is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
A large, consanguineous Canadian First Nations Miqmaq family had 5 individuals in 2 separate sibships with neonatal cholestasis, pulmonary stenosis in 3, but no posterior embryotoxon or vertebral disease (Dyack et al., 2007) Histologically, there was a paucity of intrahepatic bile ducts. Most had a broad forehead and pointed chin, but the authors state that these features were not uncommon in that community. The condition did not map to the JAG1 or NOTCH2 genes.
* This information is courtesy of the L M D.
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What gene changes cause Alagille-Like syndrome - Ar?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - 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.
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 Alagille-Like syndrome - Ar?
The typical symptoms of the syndrome are:
How does someone get tested for Alagille-Like syndrome - Ar?
The initial testing for Alagille-Like syndrome - Ar 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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