Cantu syndrome

What is Cantu syndrome?

This rare disease is a serious genetic condition with symptoms that affect different systems of the body.

It was first identified in 1982 and to date there are currently 50 cases documented worldwide.

The syndrome puts affected infants at risk for preterm and premature labor.

What gene changes cause Cantu syndrome?

Mutations to the ABCC9 gene cause the majority of cases. But mutations to the KCNJ8 are responsible for some cases also.

The majority of cases are random, and the first case in a family. The condition is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

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 which occurs during the reproductive process.

What are the main symptoms of Cantu syndrome?

The main facial features of the syndrome include a broad nose, long philtrum, wide mouth, large heads and epicanthal folds.

Excessive hair growth is a major symptom and can be found on the scalp, forehead, back, face and the limbs.

Health conditions associated with the syndrome include congenital heart abnormalities, including PDA (patent ductus arteriosus). Individuals may also suffer from skeletal abnormalities, including scoliosis.

Some individuals present with behavioural issues.

How does someone get tested for Cantu syndrome?

The initial testing for Cantu 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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