Meier-Gorlin syndrome

What is Meier-Gorlin syndrome?

Meier-Gorlin syndrome is a rare genetic disease.

Affected individuals often have small ears, a short stature and absent or very small kneecaps. Unique facial features are also present with the syndrome.

What gene changes cause Meier-Gorlin syndrome?

Gene changes in the following genes are responsible for causing the syndrome: ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5 and GMNN.

It is inherited in an autosomal recessive pattern. Apart from the mutation in the GMNN gene which 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.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Meier-Gorlin syndrome?

Characteristic facial features of the syndrome include, a small head, small chin and a small mouth, full lips and a narrow nose. As well as small ears and ear canals. Hearing loss is also associated with the syndrome. A short stature is also a symptom of the syndrome.

Breathing issues, and respiratory tract anomalies are also common.

How does someone get tested for Meier-Gorlin syndrome?

The initial testing for Meier-Gorlin 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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