Blepharonasofacial Malformation syndrome

What is Blepharonasofacial Malformation syndrome?

Also known as Pashayan syndrome, there are just 3 cases of this genetic condition diagnosed worldwide, to date.

This rare disease is defined by its unique facial features, which include a mask-like face, and by severe intellectual disability.

What gene changes cause Blepharonasofacial Malformation syndrome?

These are as yet unidentified as research is still ongoing into this incredibly rare condition. It is believed to be inherited in an autosomal dominant pattern, and possibly an x-linked 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.

With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Blepharonasofacial Malformation syndrome?

The syndrome causes individuals to have a mask-like face that prevents them from showing emotion. This is due to weak facial muscles.

Other unique facial features of the syndrome include a broad nasal bridge, and a flat and bulky nose. The ears may also not develop properly. Individuals also have blocked lacrimal or tear ducts.

Severe intellectual disability is a major symptom of the syndrome.

How does someone get tested for Blepharonasofacial Malformation syndrome?

The initial testing for Blepharonasofacial Malformation 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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