Opitz GBBB Syndrome, Type II

What is Opitz GBBB Syndrome, Type II?

It is a rare genetic syndrome that mainly affects the eyes and throat of affected individuals. Due to the way in which it is inherited it affects mainly males, and affects them more severely than females.

What gene changes cause Opitz GBBB Syndrome, Type II?

Changes to the SPECCL1 gene are responsible for 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.

Opitz GBBB syndrome type 1 occurs with a similar manifestation, and is caused by mutations in the MID1 gene. It is inherited in an X-linked recessive pattern.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Opitz GBBB Syndrome, Type II?

The main symptom of the syndrome is widely spaced eyes.
Other main symptoms include anomalies affecting the throat- most specifically the trachea, larynx and esophagus.
Developmental delay and intellectual disability, noth are usually severe, are also common with the syndrome.
Other symptoms include a cleft palate, hearing loss and immune deficiency.
Symptoms may vary according to the cause of the syndrome.

How does someone get tested for Opitz GBBB Syndrome, Type II?

The initial testing for Opitz GBBB Syndrome, Type II 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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