Opitz-Kaveggia syndrome

What is Opitz-Kaveggia syndrome?

Also known as FG syndrome it is a rare genetic condition that presents mainly in males. Its symptoms affect multiple parts of the body. The syndrome mainly affects intelligence and behavior. The syndrome has been reported in several hundred families worldwide but it is generally believed to be largely underdiagnosed as a syndrome, mainly because it shares common symptoms with other conditions and disorders. The syndrome is more common in males, due to the way in which it is inherited.

What gene changes cause Opitz-Kaveggia syndrome?

Changes in the MED12 gene seem to be the most common cause of the syndrome. Lujan-Fryns and Ohdo syndrome are also both linked to mutations in this same gene.

The syndrome is inherited in an X-linked recessive pattern.Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Opitz-Kaveggia syndrome?

The main symptoms of the syndrome include intellectual disability (mild to severe) and similar behaviors including hyperactivity and a short attention span. Affected individuals usually have delayed speech and language skills as well.

The unique facial features of the syndrome include widely spaced eyes, and a large head. Common physical features of the syndrome include low muscle tone, broad thumbs and a wide first toe.
Constipation is a common symptom, as is obstruction in the anal opening.
Some individuals also have seizures, heart defects and hernias.

How does someone get tested for Opitz-Kaveggia syndrome?

The initial testing for Opitz-Kaveggia syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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