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Cohen syndrome is a rare genetic disorder that affects many parts of the body. It’s passed down through families and can cause things like developmental delays, intellectual disability, and distinct facial features.
How is Cohen Syndrome diagnosed?
Diagnosis of Cohen Syndrome involves a combination of clinical evaluations, medical history assessment, genetic testing, and identification of characteristic physical and developmental features. A geneticist or medical specialist can guide the diagnostic process
Can individuals with Cohen Syndrome live independently as adults?
The level of independence achieved by individuals with Cohen Syndrome can vary. With appropriate support, many individuals with Cohen Syndrome can develop life skills, acquire education or vocational training, and lead semi-independent or supported lives as adults.
What are the chances of having another child with Cohen Syndrome if a family already has one affected child?
The risk of having another child with Cohen Syndrome in families with one affected child depends on the specific genetic mutation involved. Genetic counseling can provide personalized information about the recurrence risk and help families make informed decisions about family planning options.
Is genetic testing necessary to confirm a diagnosis of Cohen Syndrome?
Genetic testing, specifically testing for mutations in the COH1 gene, is typically used to confirm a diagnosis of Cohen Syndrome. It can provide a definitive answer and help guide appropriate interventions and support services.
Cohen syndrome is a rare, autosomal recessive genetic disorder characterized by developmental delay, intellectual disability, microcephaly, hypotonia, joint hypermobility, and distinct facial features. It’s caused by mutations in the VPS13B gene, which provides instructions for making a protein involved in protein trafficking within cells. Cohen syndrome affects an estimated 1 in 105,000 individuals worldwide.
Cohen syndrome can cause a wide range of symptoms that vary in severity from person to person. Some common symptoms include:
| Aspect | Description |
|---|---|
| Developmental Delays | Kids with Cohen syndrome often experience delays in reaching milestones like sitting, crawling, and walking. |
| Intellectual Disability | Most individuals with Cohen syndrome have mild to moderate intellectual disability. |
| Distinctive Facial Features | These may include thick hair and eyebrows, long eyelashes, a short philtrum (the space between the nose and upper lip), and a prominent upper lip. |
| Vision Problems | Many people with Cohen syndrome have vision issues like nearsightedness, retinal dystrophy, and crossed eyes (strabismus). |
While these symptoms can be challenging, early diagnosis and intervention can make a big difference in helping kids with Cohen syndrome thrive.
This post was originally published on July 11, 2023. It was updated on April 19, 2024.
