Oculodentodigital Dysplasia

What is Oculodentodigital Dysplasia?

It is a rare genetic syndrome that mainly affects the eyes, teeth and fingers of the body.

What gene changes cause Oculodentodigital Dysplasia?

Changes in the GJA1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern however most cases of the syndrome are the result of a de novo or new mutation.

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.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Oculodentodigital Dysplasia?

Eye issues are a main symptom of the syndrome. Individuals with the syndrome will usually have small, slanted and widely spaced eyes. Crossed eyes and glaucoma are also common ocular issues. In some cases they may cause vision loss.

Issues related to the teeth include the presence of small teeth. Individuals may also have missing teeth and weak enamel. This causes problems with dental health as well.

Symptoms related to the fingers and toes include growths in the hands and webbing of the 45th and 5th fingers or toes. They may also have curved fingers and nails that are more brittle than normal.

Other facial features of the syndrome include a thin nose, and small head. Hair growth may also be affected leading to more sparse hair in individuals with the syndrome.

How does someone get tested for Oculodentodigital Dysplasia?

The initial testing for Oculodentodigital 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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