What is ?

is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

* This information is courtesy of the L M D.

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What gene changes cause ?

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

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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:
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What are the main symptoms of ?

The typical symptoms of the syndrome are:
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How does someone get tested for ?

The initial testing for 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.