Paula and Bobby
Parents of Lillie
Amelia - congenital heart defect
What is Amelia - congenital heart defect?
Amelia - congenital heart defect is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
See elsewhere for similar/same conditions with this combination by searching under "amelia". In the report produced by Gupta and Kumar (2014). the male baby the upper limbs were presented by a 6cm stump which contaned a small bit of humerus. The lower limbs were presented by a 1cm tissue mass on one side and the other side by a skin dimple.Other organs except for the atrial septum defect, were normal.
* This information is courtesy of the L M D.
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What gene changes cause Amelia - congenital heart defect?
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 Amelia - congenital heart defect?
The typical symptoms of the syndrome are:
How does someone get tested for Amelia - congenital heart defect?
The initial testing for Amelia - congenital heart defect 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.
What is FDNA Telehealth?
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