Johnson Neuroectodermal syndrome

What is Johnson Neuroectodermal syndrome?

This rare disease is a genetic syndrome that presents with conductive hearing loss, alopecia and microtia which involves the auditory canal of the ear.

There are, to date, less than 30 cases recorded worldwide making it extremely rare.

What gene changes cause Johnson Neuroectodermal syndrome?

As yet no precise gene has yet been identified. 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 Johnson Neuroectodermal syndrome?

The main symptoms include alopecia, which is hair loss. Many individuals also have an absent or malformed ear canal. Conductive hearing loss and hypogonadism (reduced activity of the gonads) are also common.

Other symptoms of the syndrome may include missing eyebrows and eyelashes, a susceptibility to dental cavities, facial asymmetry, small ears, prominent ears and dwarfism.

How does someone get tested for Johnson Neuroectodermal syndrome?

The initial testing for Johnson Neuroectodermal 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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