Acromelic Frontonasal Dysostosis (AFND)

What is Acromelic Frontonasal Dysostosis (AFND)?

This rare disease is a rare subtype of frontal dysostosis syndrome which also presents with limb abnormalities and central nervous system malformations in affected individuals.

It occurs in less than 1 in 1 million live births.

Abnormalities affecting the digits, as well as unique facial features are common with the syndrome.

What gene changes cause Acromelic Frontonasal Dysostosis (AFND)?

Mutations in the ZSWIM6 gene are believed to cause the syndrome although research into its exact causes are ongoing. The condition is believed to be 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 Acromelic Frontonasal Dysostosis (AFND)?

Preaxial polydactyly, or extra digits on the foot closest to the big toes is one major defining feature of the syndrome. As are abnormal toenails.

Facial characteristics of the syndrome include an abnormal area between the eyebrows, clefting of the nose and nasal tip, a broader than average nasal tip, wide-set eyes, a large fontanelle, with a short and broad skull, club feet and a cleft palate.

How does someone get tested for Acromelic Frontonasal Dysostosis (AFND)?

The initial testing for Acromelic Frontonasal Dysostosis 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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