Aneurysms - Multiple, Congenital

What is Aneurysms - Multiple, Congenital?

Aneurysms - Multiple, Congenital is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Congenital aortic aneurysms are rare. They have been associated with neonatal Marfan syndrome, and occasionally they occur as an isolated finding (Fricker et al., 1979). More recenttly, 4 children were reported by Ades et al., (1996), with congenital aorta and main pulmonary artery aneurysms, dilatation of arteries elsewhere including cerebral vessels, and significant tortuosity of arteries. One had a hamartoma of the retina, and two were said to be facially dysmorphic (prominent occiput, asymmetric frontal bossing, telecanthus, posteriorly rotated ears and a short philtrum (in one). The other had proptosis, squint, thin upper lip, bifid uvula and high arch palate, hirsute helices, small jaw and post axial polydactyly of all 4 limbs. This child had a craniosynostosis, and loose joints with dislocations. All 4 children might have something unique, but all have in common an aortic aneurysm.

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* This information is courtesy of the L M D.

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What gene changes cause Aneurysms - Multiple, Congenital?

The syndrome is inherited in the following inheritance pattern/s:

Sporadic - 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.

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 Aneurysms - Multiple, Congenital?

The typical symptoms of the syndrome are:

How does someone get tested for Aneurysms - Multiple, Congenital?

The initial testing for Aneurysms - Multiple, Congenital 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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