Auriculocondylar syndrome

What is Auriculocondylar syndrome?

This rare disease is an extremely rare genetic condition that has, to date, been diagnosed in just 6 multigenerational families worldwide.

The main features and symptoms of the syndrome affect the ears and jaw.

It is an inherited condition.

What gene changes cause Auriculocondylar syndrome?

The syndrome is caused by mutations in the GNA13, EDN1 and PLCB4 genes. It 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.

What are the main symptoms of Auriculocondylar syndrome?

Symptoms related to the syndrome mainly affect the ears and jaw of individuals with the condition.

Individuals may have external ears that resemble question marks or absent, smaller ears than average. Narrow hearing canals may also be present leading to possible hearing loss.

Abnormalities in the jaw joint and specifically a short mandibular ramus is another major symptom. This might also include a small mouth, and crowded teeth. A cleft palate is also not an uncommon symptom.

Other possible unique facial features of the syndrome include facial asymmetry and puffy cheeks.

How does someone get tested for Auriculocondylar syndrome?

The initial testing for Auriculocondylar 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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