Cohen syndrome is a rare genetic disorder that affects many different parts of the body. Children with Cohen syndrome may have developmental delays, physical difficulties, and vision problems.

This syndrome is caused by mutations in the COH1 gene, which codes for a protein that is found in many different tissues.

Signs and Symptoms

Signs and symptoms of Cohen syndrome can vary widely from child to child. Some of the most common symptoms include:.

Developmental delays – Children with Cohen syndrome may take longer to reach developmental milestones, such as crawling, walking, and talking.
Facial features – Many children with Cohen syndrome have distinctive facial features, including a small head, rounded face, and lower eyelids that are turned outward.
Joint problems – Children with Cohen syndrome may have joint problems, such as loose joints or joint contractures.
Vision problems – Many children with Cohen syndrome have vision problems, including nearsightedness, farsightedness, and problems with depth perception.
Obesity – Children with Cohen syndrome may have a tendency to gain weight, even if they are not eating excessively.

Diagnosis

Diagnosing Cohen syndrome can be difficult, as many of the symptoms are also seen in other conditions. Doctors may use a variety of tools to diagnose this syndrome, including:.

Physical exam – Doctors will look for common signs and symptoms of Cohen syndrome, such as distinctive facial features, joint problems, and vision problems.
Genetic testing – A blood test can determine whether a child has a mutation in the COH1 gene that causes Cohen syndrome.
Eye exam – An ophthalmologist can examine a child’s eyes to check for vision problems.

Treatment

There is no cure for Cohen syndrome, so treatment is focused on managing symptoms and helping children to reach their developmental potential. Treatment options may include:.

Developmental therapies – Many children with Cohen syndrome benefit from physical, occupational, and speech therapy to help them reach their developmental milestones.
Vision correction – Children with Cohen syndrome may need glasses or contact lenses to correct their vision problems.
Joint management – Children with Cohen syndrome may need physical therapy or other treatments to manage their joint problems.
Weight management – Children with Cohen syndrome may need help managing their weight to prevent additional health problems.

Prognosis

The prognosis for children with Cohen syndrome can vary widely depending on the severity of their symptoms.

Some children may have few symptoms and go on to live relatively normal lives, while others may require significant support throughout their lives. With early intervention and appropriate treatment, many children with Cohen syndrome are able to reach their full potential.

Genetics

Cohen syndrome is caused by mutations in the COH1 gene, which codes for a protein that is found in many different tissues. This gene is located on chromosome 8, and mutations in this gene can lead to the various symptoms seen in Cohen syndrome.

The condition is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

Research

As Cohen syndrome is a rare disorder, there is limited research into the condition. However, scientists are studying the genetics of the disorder and working to develop better treatments to manage symptoms. Some current research includes:.

Studying the COH1 gene in order to better understand how mutations in this gene lead to Cohen syndrome
Developing new therapies to manage vision problems and joint problems associated with Cohen syndrome
Investigating new ways to diagnose Cohen syndrome earlier in life

Support

Parents of children with Cohen syndrome may find it helpful to connect with other families who are going through the same thing. There are a number of support groups and organizations that can provide information and resources, including:.