Microphthalmia, Syndromic 2

What is Microphthalmia, Syndromic 2?

It is a rare genetic syndrome also known as Marashi-Gorlin or OFCD syndrome. The syndrome presents with multiple congenital abnormalities that affect the face, dental and heart. It also includes eye abnormalities.

What gene changes cause Microphthalmia, Syndromic 2?

Mutations to the BCOR gene are responsible for the syndrome. The syndrome is inherited in 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.

What are the main symptoms of Microphthalmia, Syndromic 2?

The main symptoms of the syndrome include the following:

Eye anomalies: cataracts present at birth, secondary glaucoma and very small eyes, in some cases the ocular tissue is missing completely and in some cases these anomalies can contribute to vision loss
Facial features and abnormalities: a long and narrow face, high nasal bridge, pointed nose with a cleft or divide at the end of it and a cleft palate
Heart and cardiac defects: atrial septal defect, ventricular septal defect, floppy mitral valve
Dental issues: delayed eruption of secondary teeth, primary teeth that are delayed in falling out, teeth with enlarged roots

How does someone get tested for Microphthalmia, Syndromic 2?

The initial testing for Microphthalmia, Syndromic 2 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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