Omodysplasia

What is Omodysplasia?

It is a rare genetic syndrome defined by its unique facial features and severely shortened limbs. It is a skeletal dysplasia disorder. There are just 40 cases of the syndrome reported worldwide.

What gene changes cause Omodysplasia?

The exact gene cause is as yet unknown. There are two forms of the syndrome. One is inherited in an autosomal dominant pattern with mutations in the FZD2 gene , the second in an autosomal recessive pattern with mutations in the GPC6 gene.

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.

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 Omodysplasia?

The main symptoms of the syndrome vary according to the type of the syndrome.

The autosomal recessive form of the syndrome has severe shortening of the upper and lower limbs as a main symptom, as well as micromelic dwarfism.
The autosomal dominant form of the syndrome presents with a normal stature and only the upper limbs are shortened.

The unique facial features of the syndrome include frontal bossing, a depressed nasal bridge, a short nose and a long philtrum (the space between the bottom of the nose and the top of the upper lip).

Affected individuals may also have issues with movement of their elbows and knees.

How does someone get tested for Omodysplasia?

The initial testing for Omodysplasia 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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