Cohen Syndrome is a rare and mysterious genetic disorder. To date, it is estimated that around 1,000 people worldwide have received Cohen Syndrome diagnoses. However, the exact number of people born with this disorder each year is unknown, as the condition is difficult to diagnose and is likely underdiagnosed globally.

The symptoms and severity of Cohen Syndrome can vary greatly depending on the individual. As a result, there is still much to be learned about this rare disorder. What is known, however, is that Cohen Syndrome is an inherited disorder.

Preventing Cohen Syndrome

While Cohen Syndrome has no cure, there are ways to determine if a child will be born with Cohen Syndrome. Comprehensive carrier screening can identify if either parent has the recessive gene that causes Cohen Syndrome, while non-invasive prenatal screening can assess for multiple genetic abnormalities.

Understanding Cohen Syndrome?

Cohen Syndrome is a genetic disorder caused by alterations in an individual’s inherited genes, specifically the COH1 gene. At their most basic level, genes are made up of DNA, which gives the body instructions on how to make proteins and other compounds, the building blocks of our cells and body. An individual with Cohen Syndrome has inherited genes which produce altered proteins that do not function the way they should. 

Cohen Syndrome is a recessive genetic disorder, meaning that an individual may carry the gene that causes the syndrome, but never know it. Gene inheritance means that everyone inherits two copies for every trait they have, one from the biological mother and one from the biological father. When the genes of a recessive disorder like Cohen Syndrome are paired with a healthy gene, the healthy gene takes charge and everything functions as it should, including the production of healthy proteins.

When two parents both carry the same recessive gene, they will each pass on genes containing the recessive disorder during conception. When this happens, there is no healthy copy to support proper function and protein production. Once born, the individual will display the recessive disorder.

 Cohen Syndrome Symptoms

Symptoms of Cohen Syndrome vary widely, and the severity of these symptoms can also vary in each individual. The COH1 gene is involved in a bodily process called glycolysis, which is an initial step in converting carbohydrates into energy. This is a complex process that takes place in cells throughout the body. Because the process is so complex and involves so many different tissues and organs, the symptoms of Cohen Syndrome are complex as well. 

However rare it is, there are some symptoms commonly associated with Cohen Syndrome. A child with Cohen Syndrome may be born with an abnormally small skull. Facial features affected may include prominently large eyebrows, a disfigured nose, or an atypically small space between the eyes. Many newborn children with Cohen Syndrome have trouble gaining weight and have an abnormal cry.

Individuals with Cohen Syndrome may also have vision problems starting in childhood and becoming progressively worse as they get older. These vision problems can include trouble focusing, detecting light, decreased field of vision, small eyeballs, and optic nerve damage. Mouth and tooth development may also be abnormal. 

What Parents of Children with Cohen Syndrome Should Expect

Children with Cohen Syndrome often experience various intellectual disabilities that range from mild to moderate. These intellectual disabilities are considered non-progressive because they don’t worsen as the individual ages, although there is no opportunity to regain intellectual abilities hampered via Cohen Syndrome. Individuals with this syndrome may mistakenly receive diagnoses that place them on the autistic spectrum. As the child grows older, the ability to walk and to speak are often delayed, sometimes by years, as compared to a healthy child. 

If you are pregnant or are planning to become pregnant, screening can supply vital information about the risks of this genetic disorder and help you make informed decisions about a current or future pregnancy.