Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency

What is Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency?

Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Adderson et al., (2000) reported a boy and girl both with developmental delay, intracranial calcifications and acquired pancytopenia with humoral immunodeficiency. The boy failed to thrive from early on and by three months was found to have a low white count with absent B-cells. CT scan of the brain showed calcification of the basal ganglia, posterior temporal, and parietal regions. The ventricles were mildly enlarged. There were seizures, severe hypertension, and the child was transfusion dependant. He died at 5 months. The girl had growth retardation by the age of five months and began seizures at 9 months. She had slowly progressive hydrocephalus with basal ganglia calcification and mild sensorineural and conductive deafness. She had a similar haematological picture.

* This information is courtesy of the L M D.

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What gene changes cause Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency?

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 Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency?

The typical symptoms of the syndrome are:

How does someone get tested for Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency?

The initial testing for Adderson (2000) - Intracranial Calcification-Pancytopenia-Immunodeficiency 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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