Cohen Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cohen Syndrome?
A pediatrician (a children's doctor) often leads care for Cohen syndrome. A geneticist (a doctor for inherited conditions) can also help families. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Cohen syndrome?
Cohen syndrome is an inherited disorder that affects many parts of the body. It is marked by slow development, an intellectual disability, a small head (microcephaly), and weak muscle tone (hypotonia). The features vary widely from person to person.
It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.
Symptoms
Not everyone has every symptom.
- Weak muscle tone (hypotonia) in newborns. It can cause trouble with feeding and breathing in the first few days of life.
- Delays in milestones such as sitting up or rolling over. Walking is often delayed until 2-5 years of age.
- Speech delays are common.
- Mild to moderate trouble with learning. People can still learn new concepts.
- Thick hair and eyebrows, long eyelashes, and prominent upper central teeth.
- Nearsightedness (myopia) that usually gets worse through childhood, and crossed eyes.
- In some people, obesity around the torso that develops in late childhood or adolescence, with slender arms and legs.
- In some people, low levels of certain white blood cells (neutropenia). Some people have repeated infections.
- Children may be prone to middle ear infections.
- Curving of the spine is common.
Most children are described as sociable and cheerful. Seizures are rare but have been reported in some people.
Causes and who gets it
Changes (mutations) in the VPS13B gene cause Cohen syndrome. This gene is also called COH1. It is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have mutations. Each parent carries one changed copy but typically shows no symptoms.
If both parents are carriers, the risk of an affected child is 25% with each pregnancy. It affects males and females in about equal numbers. It appears to occur more often in people of Finnish, Amish, Greek, Mediterranean, and Irish ancestry.
How doctors diagnose it
Signs and symptoms can differ from one person to another. Other genetic disorders can look similar, such as Prader-Willi syndrome and Angelman syndrome. Comparing them can help with diagnosis. Cases are often missed or misdiagnosed.
Treatment
Treatment is aimed at the specific symptoms that each person has. It may need a team of specialists, such as pediatricians, orthopedists, ophthalmologists, and speech pathologists.
- Starting help early is important so children can reach their potential.
- Most children benefit from physical, speech, and occupational therapy.
- Eyeglasses can help with vision, and low vision training may be needed in later years.
- Antibiotics can treat repeated infections.
- Genetic counseling is recommended for families.
When to see a doctor
Parents should talk to their child's doctor and medical team about their child's case. Newborns with Cohen syndrome can have trouble feeding and breathing in the first few days of life. Seizures have been reported in a minority of people with Cohen syndrome. Call 911 or go to the emergency room if your child has trouble or abnormal breathing, a seizure, or unconsciousness.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Treatment of Cohen syndrome may require a team of specialists.
Common questions
Is Cohen syndrome inherited?
Yes, Cohen syndrome is an inherited disorder. It is caused by changes in the VPS13B gene and is passed on in an autosomal recessive pattern.
Can people with Cohen syndrome learn?
Yes, people with Cohen syndrome can learn new concepts. The learning trouble is mild to moderate and does not get worse over time.
Does Cohen syndrome affect the eyes?
Yes, eye problems are common in Cohen syndrome. They include nearsightedness and crossed eyes, and some people have retinal dystrophy.
How common is Cohen syndrome?
Cohen syndrome is rare. It has been diagnosed in fewer than 1,000 people worldwide, and more cases are likely undiagnosed.
Does Cohen syndrome get worse over time?
It depends on the feature. Trouble with learning does not get worse over time, but nearsightedness usually does.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
