Dubowitz syndrome

What is Dubowitz syndrome?

Dubowitz syndrome is a very rare genetic condition, with less than 200 cases diagnosed worldwide to date.

Currently the research has not revealed one common genetic cause of the condition, and there are some researchers and medical professionals who continue to argue that it is not a condition simply a collection of symptoms.

The main features of the condition are a short stature and a susceptibility to specific cancers.

What gene changes cause Dubowitz syndrome?

There is currently no common genetic cause identified to cause the syndrome. Mutations in the NSUN4 and LIG4 genes appear to cause similar characteristics in some individuals.

The condition appears to be an inherited one, and it is currently thought it is inherited in an autosomal recessive pattern.

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 Dubowitz syndrome?

Intrauterine growth delay and a low birth weight are often the first indicators of the syndrome. Individuals have a short stature, continued slow growth and a susceptibility to certain types of cancer including leukemia and lymphoma.

Unique facial features of the syndrome include a small head, a triangular or narrow face, droop eyes, ears set too low, sparse hair and eyebrows, and a small jaw.

Immune issues are common, and this triggers recurrent infections including allergies and eczema.

Many individuals with the syndrome are also diagnosed with ADHD and behavioural issues are not uncommon.

How does someone get tested for Dubowitz syndrome?

The initial testing for Dubowitz 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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