Paula and Bobby
Parents of Lillie
Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri
What is Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri?
Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Male sibs born to 3rd degree cousin parents had a similar condition (Agarwal et al., 2014) lethal in both and only one could be examined. There was profound microcephaly and growth retardation and little progress in development. There was edema of the hands and feet, cryptorchidism and a micropenis. The optic disc and retinal vessels were underdeveloped and the head hair was sparce. CT of the brain showed a simplified gyral pattern and an absent cerebellar vermis. Molecular analysis could not be made.
* This information is courtesy of the L M D.
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What gene changes cause Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri?
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.
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 Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri?
The typical symptoms of the syndrome are:
How does someone get tested for Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri?
The initial testing for Agarwal (2014) - microcephaly - agenesis of optic disc - simple gyri 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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