Cohen Syndrome

What is Cohen syndrome?

Cohen syndrome is a genetic condition that affects many parts of the body, including vision, growth, muscle tone and cognitive function. It can also contribute to physical characteristics like small head size, thick hair and short stature, among others.

Children diagnosed with this condition experience developmental delays. Skills like rolling over, walking and speaking may happen later than expected. Despite delays, children are often expressive, cheerful and sociable.

A genetic change causes this condition and there’s no cure. Most people diagnosed with Cohen syndrome have a normal life expectancy but need assistance throughout their lifetime.

How common is Cohen syndrome?

Cohen syndrome isn’t common. Some studies report that there are fewer than 1,000 people diagnosed with this condition worldwide. This estimate may be lower than expected because many cases go undiagnosed.

What are the symptoms of Cohen syndrome?

Signs and symptoms of Cohen syndrome include:

• Problems with cognitive development.
• Weak muscle tone (hypotonia).
• Very flexible (hypermobility).
• Nearsightedness (myopia) that gets worse with age.
• Retina damage (retinal dystrophy or chorioretinitis).

Newborns may experience:

• Feeding difficulty.
• Weak or high-pitched cry.
• Trouble breathing.
• Difficulty gaining weight.

Contact 911 or your local emergency services number immediately if your child has trouble breathing.

Children may need more time than their peers to learn and grow. Developmental delay can start during infancy with early signs such as rolling over or sitting upright on their own. Your child might not start walking until after age 2 but before age 5.

This condition may cause behavioral challenges, but most children are sociable and expressively cheerful.

These signs and symptoms vary from person to person. Many children don’t experience all of these symptoms.

Characteristics of Cohen syndrome

Facial features and physical characteristics common with Cohen syndrome include:

• Small head (microcephaly).
• Thick hair and eyebrows and long eyelashes.
• Down-slanting eyes (wave-shaped palpebral fissures).
• Round nasal tip.
• Short distance between nose and upper lip (philtrum).
• Projecting top teeth.
• Large ears.

Some of these features become more apparent as your child ages, usually after age 5.

Additional physical characteristics usually develop during childhood and later and could include:

• Abnormal distribution of fat in the trunk with slender arms and legs.
• Short stature.
• Delayed puberty.
• Undescended testicles for children assigned male at birth.
• Spine curvature (scoliosis or kyphosis).

Co-occurring conditions with Cohen syndrome

Children diagnosed with Cohen syndrome may be more at risk of having other conditions that affect their immune system, including:

• Neutropenia.
• Autoimmune conditions like diabetes mellitus, thyroid disease and celiac disease.

What causes Cohen syndrome?

A genetic change (mutation) of the VPS13B gene (COH1 gene) causes Cohen syndrome.

The VPS13B gene is part of the Golgi apparatus. This is like a protein packaging factory within your body. With a new protein, your body sends this raw material to the Golgi apparatus to receive updates or modifications and get sorted with other similar proteins. After modifications, the Golgi apparatus packages proteins with their instruction manuals before getting shipped out to a specific location.

The VPS13B gene works specifically with proteins by attaching sugar molecules to them (glycosylation). It also helps organize and send out nerve cells (neurons) and fat cells (adipocytes).

A genetic change of the VPS13B gene affects the factory’s ability to produce quality products. This leads to symptoms of Cohen syndrome.

Is Cohen syndrome inherited?

Yes, you can inherit Cohen syndrome. The condition passes in an autosomal recessive pattern. This happens when a child receives two copies of the genetic variant that causes the condition. Biological parents may be carriers but not have the condition themselves, as they have only one genetic variant.

What are the risk factors for Cohen syndrome?

Cohen syndrome can affect anyone. This condition is more common among certain ancestries like:

• Amish.
• Finnish.
• Greek (Mediterranean).
• Irish.

What are the complications of Cohen syndrome?

Cohen syndrome can lead to the following complications:

• Common infections like a middle ear infection (otitis media).
• Dental and oral problems like gingivitis and canker sores.
• Vision issues.
• Intellectual disability.

How is Cohen syndrome diagnosed?

A healthcare provider will diagnose Cohen syndrome after a physical exam and testing. As a parent or caregiver, you might reach out to your child’s healthcare provider if they’re not meeting developmental milestones for their age. This is an early sign of the condition.

A Cohen syndrome diagnosis can be difficult to obtain, as symptoms can look similar to many other conditions. Testing can help your provider rule these out. A genetic blood test can identify the gene change responsible for symptoms.

How is Cohen syndrome treated?

There isn’t a cure for Cohen syndrome. Treatment focuses on managing symptoms and could include but isn’t limited to the following:

• Early intervention educational programs.
• Occupational therapy.
• Physical therapy.
• Speech therapy.
• Wearing eyeglasses or low vision training.

Treatment for neutropenia associated with Cohen syndrome usually involves injections into your skin of granulocyte-colony stimulating factor (G-CSF). This stimulates your bone marrow, so it produces more white blood cells.

If your child experiences frequent infections, a healthcare provider will prescribe antibiotics to treat those as needed.

Can Cohen syndrome be prevented?

There isn’t a way to prevent Cohen syndrome. If you’re planning on expanding your family and want to learn more about your risk of having a child with an inherited condition like Cohen syndrome, talk to your pregnancy care provider or healthcare provider about genetic testing.

What is the life expectancy of Cohen syndrome?

As Cohen syndrome isn’t common, there isn’t enough evidence to determine how it affects a person’s life expectancy. Many people diagnosed with the condition experience a normal life expectancy but not all do, especially if your child has a related condition that affects their immune system.

What is the prognosis for Cohen syndrome?

Cohen syndrome can affect many aspects of your child’s life, but they’ll likely have a good prognosis with treatment.

A healthcare provider will recommend different treatment options to address their symptoms. These vary from person to person. Treatment usually includes therapies and educational programs to help your child meet developmental milestones for their age.

Vision symptoms and dental complications may affect your child and usually start when they become school age. Make regular appointments with an eye care specialist, dentist and other recommended healthcare providers to monitor your child’s symptoms as they grow.

When should I see a healthcare provider?

As your child’s caregiver, you know them best. If anything about their growth or development seems off, contact their provider.

Pay close attention to your child’s developmental milestones. It’s common for children diagnosed with Cohen syndrome to need extra time to meet these milestones like rolling over or speaking their first words. A healthcare provider can offer guidance on how to help your child during this time.

If your child has trouble breathing or a pale or bluish tone to their skin and nails, contact emergency services immediately.

What questions should I ask my healthcare provider?

• What should I do if my child misses developmental milestones?
• What symptoms should I look out for?
• What type of treatment do you recommend?
• Are there side effects of treatment?
• How do I help my child succeed in school?

Is Cohen syndrome autism?

No. Autism spectrum disorder (ASD) is a neurodevelopmental disease. Cohen syndrome is a genetic condition. They aren’t the same. Many children diagnosed with Cohen syndrome experience similar symptoms as ASD or can have ASD with Cohen syndrome.