Nasopalpebral lipoma-coloboma syndrome

What is Nasopalpebral lipoma-coloboma syndrome?

It is a rare genetic syndrome that affects mainly the eyes specifically with lipomas ( benign tissue of fat) and colobomas (holes in any part of the eye- iris, retina, choroid, optic disc).

What gene changes cause Nasopalpebral lipoma-coloboma syndrome?

Mutations in the ZDBF2 gene are possibly responsible for causing the syndrome. It is 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 Nasopalpebral lipoma-coloboma syndrome?

The main symptoms of the syndrome include lipomas on the upper eyelid and nasopalpebral. Lipomas are benign tumors made of fat. It also includes colobomas (holes in parts of the eyes) in the upper and lower eyelids. Telecanthus is another main syndrome, this means there is an increased distance between the inner corners of the eyes.
The syndrome also presents with an underdeveloped jaw (maxillary hypoplasia).

How does someone get tested for Nasopalpebral lipoma-coloboma syndrome?

The initial testing for Nasopalpebral lipoma-coloboma 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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