Frontofacionasal Dysplasia

What is Frontofacionasal Dysplasia?

This rare disease is a congenital malformation syndrome affecting the head, face and eyes of affected individuals.

First discovered in 1981 there have been less than 10 cases diagnosed to date.

As many as 3 of the diagnosed cases were from individuals of Brazilian descent.

What gene changes cause Frontofacionasal Dysplasia?

The exact cause or gene mutations are as yet unknown. The condition is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Frontofacionasal Dysplasia?

The main symptoms of the syndrome affect the head, face and eyes of individuals affected by it.

This includes skeletal abnormalities with the development of the skull, which leads to many of the unique facial features of the syndrome. These include a short and broad head, a cleft palate, cleft lip, an underdeveloped nose and malformed nostrils. Dental abnormalities may also be present.

Symptoms relating to the eyes include drooping of the upper eyelid, an inability to close the eyes, and many related eye defects and symptoms.

How does someone get tested for Frontofacionasal Dysplasia?

The initial testing for Frontofacionasal Dysplasia 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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