ADAM22-Related Disorder

What is ADAM22-Related Disorder?

ADAM22-Related Disorder is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Muona et. al. (2016) described a female patient with compound heterozygous mutations in the ADAM22 gene (from a cohort of 30 patients with severe epileptic syndromes). Clinical characteristics included microcephaly and intermittent swelling of extremities and face. Seizure types included focal, generalized and myoclonic seizures. Dysmorphic features were narrow forehead, short nose, open mouth, full lips, high and narrow palate, and outward-turning of the ear lobules. Brain imaging showed extensive loss of both gray and white matter, widening of the CSF spaces, signal change in thalami, supratentorial atrophy and subdural effusion.

* This information is courtesy of the L M D.

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What gene changes cause ADAM22-Related Disorder?

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.


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:
N/A

What are the main symptoms of ADAM22-Related Disorder?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for ADAM22-Related Disorder?

The initial testing for ADAM22-Related Disorder 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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