Robinow syndrome

What is Robinow syndrome?

Robinow syndrome is a rare genetic condition that was first identified in 1969.

The disease has two forms, autosomal dominant and autosomal recessive, and depending on the type causes varying severity of symptoms.

The defining features of the syndrome include short-limbed dwarfism, anomalies affecting the head and face, as well as anomalies affecting the external genitalia of a diagnosed individual.

What gene changes cause Robinow syndrome?

The autosomal recessive form of the syndrome is caused by mutations in the ROR2 gene. Symptoms associated with this type of the syndrome are generally more severe.

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.

The autosomal dominant form of the syndrome is caused by mutations to the WNT5A or DVL1 genes. Symptoms are generally milder with this type of the syndrome.

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 Robinow syndrome?

Facial and physical characteristics include short limbs and dwarfism. Short fingers and toes as well as small hands. A cleft tongue, depressed nose bridge, eye folds, a downward pointing mouth, low set ears, a short neck and thin upper lip.

Individuals with the syndrome may also experience fused or missing ribs, underdeveloped genitalia, dental problems and kidney and heart defects.

How does someone get tested for Robinow syndrome?

The initial testing for Robinow 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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