Focal Facial Dermal Dysplasia

What is Focal Facial Dermal Dysplasia?

Also known as Brauer syndrome, there have been 80 cases of this rare genetic disease recorded, to date, since the syndrome was first identified in 1929.

The disease is characterized by congenital (present at birth) facial lessons around the temples of the face.

There are 4 types of the syndrome,

Type 1- Brauer
Type 2- Brauer-Setleis
Type 3- Setleis
Type 4

What gene changes cause Focal Facial Dermal Dysplasia?

Genes FFDD1, FFDD2, TWIST2 and CYP26C1 have been linked to the phenotype, but in the first two, research is still ongoing.

Autosomal recessive pattern has been demonstrated for the first two genes, whilst the others have been shown to be inherited in a autosomal dominant way.

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.

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 Focal Facial Dermal Dysplasia?

The main symptom of the syndrome is the presence of facial lesions, from birth, on the temples of affected individuals.

They may also experience skin, or parts of skin, missing. Other symptoms relating to the skin, include indented skin and skin pigmentation that may be spotted or patchy.

Other physical features of the syndrome may include eyelashes that fail to grow, a large and wide nose, pointed chin and a full, upper lip.

How does someone get tested for Focal Facial Dermal Dysplasia?

The initial testing for Focal Facial Dermal 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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