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Cohen syndrome

Cohen syndrome (CS) is a condition that affects many parts of the body. Children who are affected by CS typically have delayed developmental milestones, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Some other problems that people with CS may experience include progressive vision problems, unusual levels of flexibility, low levels of white blood cells, characteristic facial features, and obesity that develops in the teen years.

The first symptoms of CS typically present in infancy and childhood. Life expectancy is normal, but quality of life may be reduced due to visual impairment. Early initiation of treatment and therapies is recommended to maximize outcomes. Treatment is focused on managing the individual's symptoms.

Quick facts about Cohen syndrome
Genes: VPS13B
Relevant resources for Cohen syndrome

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is Cohen syndrome inherited?

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes Cohen syndrome, but there's a total 301 conditions that can be tested.

Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for Cohen syndrome before or early in pregnancy?

The biggest benefit of screening for Cohen syndrome is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic condition is low.