Cohen Syndrome

Other names
Causes of Cohen syndrome
Symptoms of Cohen syndrome
Diagnostic tests for Cohen syndrome
Non-pharmacological (non-drug) treatments
Drug treatments
Dietary molecular supplements
Immunity-booster / regenerative / stem-cell related” drugs or strategies
Possible surgeries or procedures
Key prevention strategies
When to see doctors (or go to emergency care)
What to eat and what to avoid
Frequently asked questions (FAQs)

Cohen syndrome is a very rare genetic condition that affects many parts of the body, especially growth, learning, eyes, blood cells, and body shape. It usually shows up in early childhood with slow development, weak muscle tone, and later central (truncal) obesity, short height, and eye problems that can slowly damage vision.

Cohen syndrome is a rare genetic condition that affects how a child grows, learns, and sees. It is usually caused by changes in a gene called VPS13B, which is inherited in an autosomal recessive way (both parents carry one changed copy). Common features include developmental delay, low muscle tone, short stature, obesity that is mostly around the trunk, small head size, vision problems from retinal dystrophy, characteristic facial features, and low levels of white blood cells (neutropenia). There is no cure, but early diagnosis and careful lifelong follow-up can greatly improve quality of life.

Cohen syndrome can affect many body systems at the same time. Children may sit, walk, and speak later than usual. They often have a gentle, cheerful personality. Over time, some children develop night blindness and loss of side vision because the retina (the light-sensing layer inside the eye) slowly degenerates. Many also have joint laxity, scoliosis, and low muscle tone that make moving and balance harder.

Doctors know that Cohen syndrome follows an autosomal recessive inheritance pattern. This means a child gets one non-working copy of the same gene from each parent, who are usually healthy carriers. The condition has been reported in only a few hundred to about a thousand people worldwide, so many doctors see it very rarely.

Children and adults with Cohen syndrome often have a combination of features: developmental delay, intellectual disability, small head size (microcephaly), soft or weak muscles (hypotonia), joint hypermobility, distinctive facial appearance, and eye disease such as high myopia and retinal dystrophy. Some people also have low white blood cells, especially neutrophils, which increases the risk of infections.

Other names

Cohen syndrome is known by several other names in medical articles. These are not different diseases, just older or alternative names for the same condition: Pepper syndrome, Cervenka syndrome, Mirhosseini-Holmes-Walton syndrome, and “COH1-related disorder.” All of these names refer to the same autosomal recessive disorder caused by changes in the VPS13B gene.

Doctors do not have strict official “types” of Cohen syndrome like type 1 or type 2. However, they often group people by the most prominent problems. This is just a practical way to describe patterns, not formal subtypes. For example, some people mainly have eye and vision problems, some have more blood and infection problems, and some have more growth and obesity problems.

Common clinical “patterns” that doctors sometimes describe are:

A form where eye disease and vision loss (myopia and retinal dystrophy) dominate.
A form where neutropenia and frequent infections are very noticeable.
A form where truncal obesity and short stature are the strongest findings.
A form where developmental delay and intellectual disability are the major concerns.

All of these patterns are still considered Cohen syndrome, and many patients show features from more than one pattern at the same time.

Causes of Cohen syndrome

The single direct cause of Cohen syndrome is a problem (pathogenic variant) in a gene called VPS13B on chromosome 8. Everything below describes different aspects of this one main cause, not 20 separate diseases.

Biallelic VPS13B mutation (main cause)
Every person with Cohen syndrome has two non-working copies of the VPS13B gene, one from each parent. “Biallelic” means both copies are changed. When both copies fail, the body cannot make a normal VPS13B protein, and this leads to the typical signs of Cohen syndrome.
Autosomal recessive inheritance in families
Cohen syndrome follows an autosomal recessive pattern. Parents are healthy carriers with one normal and one changed VPS13B gene. When two carriers have a child, there is a 25% chance in each pregnancy that the child will get both changed genes and have Cohen syndrome.
Loss-of-function mutations
Most VPS13B changes are “loss-of-function.” This means the mutation stops the gene from making a full, working protein, often by creating a premature stop signal or cutting the gene in the wrong place. The missing protein function leads to problems in many body systems.
Different mutation types (nonsense, frameshift, splice-site)
The gene can be damaged in several technical ways: nonsense variants, frameshift variants, and splice-site variants are common. All of these disturb the instructions for building VPS13B and lead to a protein that is too short or incorrectly made.
Compound heterozygous mutations
Some people inherit two different faulty changes in VPS13B (one from each parent). This is called “compound heterozygous.” Even though the two variants are not the same, together they stop VPS13B from working correctly and cause Cohen syndrome.
Homozygous mutations in consanguineous families
In some families where parents are related to each other (consanguineous), the child inherits the same faulty VPS13B change from both parents. This is called a homozygous mutation and is common in reported case series of Cohen syndrome.
Disruption of Golgi apparatus function
The VPS13B protein helps keep the Golgi apparatus in cells organized. When VPS13B is missing, the Golgi structure becomes abnormal. This disrupts how proteins and fats are processed and transported inside the cell.
Defective protein glycosylation
One key job of the Golgi is to add sugar chains to proteins, a process called glycosylation. In Cohen syndrome, faulty VPS13B leads to abnormal glycosylation. This may affect many proteins in the body and can help explain the wide range of symptoms.
Impaired lipid transport at contact sites
VPS13B belongs to a family of proteins that transfer lipids between cell membranes. When this transport is disturbed, important cell membranes, especially in nerve and retinal cells, may not be maintained properly, contributing to brain and eye problems.
Neurodevelopmental effects on the brain
Because VPS13B is active in brain cells, loss of its function alters how brain networks form and connect. This is believed to underlie developmental delay, intellectual disability, and sometimes behavioral features in Cohen syndrome.
Effects on eye and retinal cells
VPS13B is also important in the retina, the light-sensitive tissue at the back of the eye. When the gene does not work, retinal cells slowly degenerate, causing progressive myopia, retinal dystrophy, night blindness, and visual field loss.
Effects on blood cell development (neutropenia)
Many patients have low neutrophil counts (neutropenia). The exact mechanism is still being studied, but VPS13B seems to play a role in bone marrow or immune cell function. When it fails, neutrophil production or survival can drop, leading to infections.
Influence on growth and fat distribution
Loss of VPS13B function also affects growth and body composition. Children may grow slowly at first, then gain fat around the trunk during teenage years. This typical pattern of short stature and truncal obesity is part of the syndrome’s cause-and-effect chain.
Influence on muscle tone and joints
VPS13B changes are linked to low muscle tone (hypotonia) and loose joints (hypermobility). These features are likely due to combined effects on connective tissue, nerves, and muscles.
Founder mutations in some populations
In certain groups (for example some Finnish or other isolated populations), specific VPS13B mutations are found repeatedly. These are called founder mutations and are an important cause of Cohen syndrome inside those populations.
De novo mutations (new in the child)
While many cases are inherited from carrier parents, some children may have a new (de novo) VPS13B change that was not present in their parents. This is less common but still a recognized mechanism for causing the syndrome.
Gene–gene and background effects
People with the same VPS13B mutation can look quite different clinically. This suggests that other genes and background factors in each person’s DNA can modify how severe the syndrome becomes, even though the main cause is still VPS13B loss.
Environmental influences on expression (not on cause)
Environment does not cause Cohen syndrome, but it can shape how it appears. For example, access to early visual aids, physical therapy, or infection control will influence the degree of disability, even though the genetic cause stays the same.
Carrier frequency and risk in certain communities
In communities with higher carrier frequency, such as some groups with shared ancestry, the chance that two carriers meet and have an affected child is higher. This community pattern influences how often the cause is seen in a population.
Research-level mechanisms still being explored
New research shows that VPS13B is part of a wider network of lipid-transport and membrane-contact proteins. Scientists are still learning exactly how this network affects brain, retina, and immune cells in Cohen syndrome, but all these mechanisms stem from the original VPS13B defect.

Symptoms of Cohen syndrome

Developmental delay
Many children with Cohen syndrome sit, walk, and talk later than other children. They may need extra help to learn basic skills such as dressing, feeding, and using the toilet. The delay is usually present from the first year of life.
Intellectual disability
Most people with Cohen syndrome have mild to severe problems with thinking, learning, and problem-solving. They may find reading, writing, and math hard and often need special education support at school.
Small head size (microcephaly)
The head is often smaller than average for age and sex. Sometimes the baby is born with a normal head size, but the head grows more slowly over time, leading to acquired microcephaly.
Weak muscle tone (hypotonia)
Babies may feel “floppy” when picked up and may have trouble lifting their head or rolling over. Hypotonia makes it harder to sit, stand, and walk, and it also affects chewing and swallowing.
Joint hypermobility
Many children have very flexible joints, particularly in fingers, wrists, and ankles. This can make their movements look loose and can cause fatigue or pain after physical activity.
Poor weight gain in infancy
In the first years of life, babies with Cohen syndrome may have feeding difficulties, poor sucking, and slow weight gain. This early “failure to thrive” often worries parents and doctors.
Truncal obesity in adolescence
During teen years, many patients suddenly gain fat mainly around the trunk (chest and abdomen) without eating more food. Arms and legs may remain relatively slim, giving a typical body shape.
Short stature
Many children and adults are shorter than expected for their family background. This short stature usually becomes clear in later childhood or early teenage years.
Distinctive facial features
Common facial features include thick hair and eyebrows, low hairline, long eyelashes, short philtrum (space between nose and upper lip), prominent nose, and often open-mouth posture. These features help clinicians recognize the syndrome.
Eye problems: high myopia
Many patients develop strong nearsightedness (high myopia). They can see near objects better than far objects, but the degree of myopia is often severe and gets worse over time.
Retinal dystrophy and night blindness
The retina slowly degenerates, which may start with trouble seeing in dim light (night blindness) and progress to narrow side vision and later serious vision loss. Some adults become legally blind.
Neutropenia and recurrent infections
Many individuals have low neutrophil counts either all the time or from time to time. This can lead to repeated fevers, mouth sores, gum infections, and other bacterial infections.
Dental and gum problems
Thick gums (gingival overgrowth), crowded teeth, and other dental issues are common. Combined with neutropenia and mouth breathing, these can lead to frequent mouth infections and dental caries if not managed carefully.
Motor coordination and balance problems
Children may have clumsy movements, poor balance, and difficulty with fine motor skills such as writing or buttoning clothes. This is related to hypotonia, joint laxity, and neurodevelopmental issues.
Behavioral and personality traits
Many reports describe a friendly, sociable, and pleasant personality in people with Cohen syndrome, despite their disabilities. Some may also have anxiety, attention problems, or autism-like features, but this varies between individuals.

Diagnostic tests for Cohen syndrome

Doctors diagnose Cohen syndrome by combining what they see on exam with lab tests, eye tests, and, most importantly, genetic testing for VPS13B. Below are 20 important tests grouped by category.

Physical examination tests

Physical exam and growth chart review (Physical exam)
The doctor measures height, weight, head size, and body mass index, then plots these on growth charts. In Cohen syndrome they may see small head size, short stature, and later truncal obesity, along with characteristic facial features and body build.
Neurological exam for tone and reflexes (Physical exam)
The clinician checks muscle tone, strength, reflexes, and coordination. Hypotonia, reduced strength, and sometimes delayed or abnormal reflexes are common in Cohen syndrome and help support the diagnosis.
Ophthalmic inspection with basic tools (Physical exam)
Using a light and simple eye instruments, the doctor looks at eye alignment, eyelids, eyelashes, and front of the eye. Long eyelashes, narrowed eyelid openings, and strabismus may be present and fit the typical facial and eye pattern.
Dental and oral examination (Physical exam)
The mouth, teeth, gums, and palate are carefully inspected. Thick gums, crowded teeth, high or narrow palate, and open-mouth posture are frequent clues that point toward Cohen syndrome.

Manual / bedside functional tests

Developmental milestone assessment (Manual test)
The doctor or therapist asks about and observes basic skills such as sitting, walking, talking, dressing, and playing. Standard developmental scales may be used. Delays across several areas are typical and help raise suspicion of a syndromic cause like Cohen syndrome.
Cognitive and learning assessment (Manual test)
Psychologists use simple age-appropriate tests to check understanding, memory, and problem-solving. These tests help define the level of intellectual disability and guide schooling and therapy needs.
Visual acuity test with eye chart (Manual test)
The patient reads letters or symbols on an eye chart at a fixed distance. This test measures how clearly they can see. People with Cohen syndrome often have high myopia, so their visual acuity is reduced without strong glasses.
Joint flexibility and motor tests (Manual test)
The clinician gently moves joints to see how far they bend and may use scoring systems like the Beighton score. They also ask the child to walk, run, jump, or pick up small objects. Loose joints and clumsy movement support the clinical picture.

Laboratory and pathological tests

Complete blood count with differential (Lab / pathological)
A CBC measures numbers of red cells, white cells, and platelets. In Cohen syndrome, the total white cell count or specifically the neutrophil count may be low, revealing neutropenia that explains recurrent infections.
Serial absolute neutrophil count monitoring (Lab / pathological)
Because neutropenia can be intermittent, doctors often repeat ANC measurements over time. This helps distinguish persistent, intermittent, or infection-related drops in neutrophils and supports association with Cohen syndrome rather than another disease.
Peripheral blood smear (Lab / pathological)
A smear looks at blood cells under a microscope. It can show whether neutrophils are reduced but otherwise normal, and it helps rule out leukemia or other serious blood disorders that might mimic some features.
Targeted VPS13B gene sequencing (Lab / pathological)
This test reads the VPS13B gene letter by letter to look for known or new disease-causing variants. Finding two pathogenic variants that fit the clinical picture confirms the diagnosis of Cohen syndrome.
Multigene panel or exome sequencing (Lab / pathological)
Sometimes doctors order broader tests that look at many genes linked to intellectual disability, retinal dystrophy, or syndromic conditions. These panels or exome tests can find VPS13B variants even when the syndrome was not suspected at first.
Basic metabolic and endocrine panel (Lab / pathological)
Tests such as glucose, thyroid hormones, liver and kidney function are checked to rule out other conditions that can also cause developmental delay, weight problems, or fatigue. These tests do not diagnose Cohen syndrome, but they help exclude other causes.
Immunologic tests (Lab / pathological)
Doctors may measure immunoglobulin levels or other immune markers in people who have frequent infections. These tests help understand how neutropenia and any other immune issues are contributing to the clinical picture.

Electrodiagnostic tests

Electroretinography (ERG) (Electrodiagnostic)
ERG records the electrical response of the retina to light flashes. In Cohen syndrome, ERG often shows reduced or abnormal signals that match retinal dystrophy. This helps confirm that vision loss is due to a degenerative retinal problem.
Visual evoked potentials (VEP) (Electrodiagnostic)
VEP measures electrical responses in the brain when the eyes see patterns or flashes. It helps assess the function of the whole visual pathway. In some patients with Cohen syndrome, VEP may show delayed or reduced responses, supporting the presence of significant visual system involvement.

Imaging tests

Fundus photography and optical coherence tomography (OCT) (Imaging)
Fundus photos take pictures of the back of the eye, and OCT gives cross-section images of the retina. In Cohen syndrome, these tests can show retinal thinning, pigment changes, and other signs of retinal dystrophy and high myopia.
Brain MRI (Imaging)
MRI scans can reveal structural brain differences, such as reduced brain volume or mild malformations, in some individuals with Cohen syndrome. The main use is to rule out other causes of developmental and movement problems and to better understand the neurodevelopmental effects.
Skeletal X-rays and spine imaging (Imaging)
X-rays of the spine and limbs may be done to check for scoliosis, hip problems, or other bone changes that sometimes occur in Cohen syndrome. These images guide orthopedic management and physical therapy plans, especially when there is back pain or posture difficulty.

Non-pharmacological (non-drug) treatments

These are supportive therapies and lifestyle measures that are usually safe and very important for Cohen syndrome management. They must always be personalized by the care team.

Early developmental intervention programs
Structured early-intervention services (from infancy) help with motor, language, and social skills. Simple play-based therapy, guided by developmental specialists, can improve sitting, walking, speaking, and daily living activities. The goal is to build independence and confidence as early as possible, and to prevent secondary problems such as contractures or behavioral frustration.
Physiotherapy for low muscle tone and balance
Regular physiotherapy focuses on strengthening weak muscles, improving posture, balance, and coordination. Gentle exercises, stretching, and walking practice lessen joint laxity-related instability, reduce fall risk, and improve endurance. Programs are usually fun and play-oriented for children, using balls, mats, and games.
Occupational therapy for daily skills
Occupational therapists train children and adults to manage dressing, feeding, writing, and using tools. They may recommend adapted utensils, special chairs, or customized splints. The purpose is to make daily activities easier and safer, minimizing fatigue and frustration at home and school.
Speech and language therapy
Many people with Cohen syndrome have delayed speech and may have difficulty understanding and expressing language. Speech therapy uses pictures, simple words, and sometimes communication devices to improve understanding, pronunciation, and social interaction. This can greatly reduce behavior problems that come from not being able to communicate needs.
Special education and learning support
Children often benefit from individualized education plans (IEPs) with small-group teaching, extra time for tasks, and practical learning methods. Teachers can use clear, visual instructions and step-by-step teaching. The goal is to match teaching style to the child’s cognitive profile, so they can progress academically at their own pace.
Vision rehabilitation and low-vision aids
Because retinal dystrophy and high myopia are common, low-vision services can help. These may include high-contrast reading materials, magnifiers, special lighting, and orientation-and-mobility training. Early teaching of visual strategies can help people adapt as vision slowly worsens.
Regular ophthalmology follow-up
Frequent eye exams monitor myopia, retinal changes, and cataract formation. The eye doctor can adjust glasses or contact lenses and detect treatable complications early. Even though the retinal dystrophy is progressive, supportive care can protect remaining vision for as long as possible.
Nutritional counseling for obesity and growth
Cohen syndrome often combines truncal obesity with short stature and growth issues. A dietitian can design a balanced meal plan that supports growth without excessive calories. Simple steps like portion control, limiting sugar-sweetened drinks, and increasing fiber can prevent rapid weight gain and metabolic problems.
Oral and dental care
Dental problems, including prominent upper incisors and crowded teeth, are common. Regular dental visits, fluoride use, and good oral hygiene are crucial, especially because neutropenia raises infection risk. Sometimes orthodontic treatment or mouth guards are needed to protect teeth.
Physical activity and adapted sports
Gentle, regular physical activity such as walking, swimming, or adapted sports supports heart health, weight control, and mood. Exercises are chosen to respect low muscle tone and balance issues. Activity should be supervised and fun, not exhausting or painful.
Behavioral and psychological support
Although many individuals have a cheerful temperament, they can still experience anxiety, frustration, or social difficulties. Psychologists and behavioral therapists use simple strategies and visual routines to manage behavior and support emotional health, including for parents and siblings.
Sleep hygiene programs
Some children have sleep problems due to developmental delay or behavioral issues. Regular bedtime routines, limiting screens before sleep, and adapting the bedroom environment can improve rest. Better sleep supports learning, mood, and daytime behavior.
Infection-prevention lifestyle measures
Because neutropenia increases infection risk, simple hygiene steps are very important. These include frequent handwashing, careful dental care, quick attention to cuts, and avoiding close contact with people who have active infections. Families are taught to watch for fever and seek medical help quickly.
Regular immunizations (per local schedule)
Routine vaccines, including influenza and pneumococcal vaccines, reduce the chance of serious infections in people with chronic neutropenia, as long as the clinician agrees they are safe. In some cases, additional vaccines may be recommended.
Orthopedic monitoring and bracing
Joint laxity and scoliosis can cause pain and mobility problems. Orthopedic teams may use braces, shoe inserts, or special seating systems to keep the spine aligned and support weak joints. Early intervention can delay or sometimes avoid major surgery.
Assistive communication devices
Some individuals benefit from picture-exchange communication systems, tablets with symbol-based apps, or simple communication boards. These tools support understanding and expression when speech is limited, reducing frustration and improving social participation.
Social and family support services
Social workers can help families access financial support, special education rights, respite care, and local support groups. This reduces caregiver burnout and improves long-term stability and adherence to treatment plans.
Genetic counseling for the family
Genetic counselors explain autosomal recessive inheritance, carrier risks, and options for future pregnancies. They also help relatives understand what testing is available and what the diagnosis means for long-term planning.
Regular structured surveillance visits
Expert guidelines recommend scheduled follow-up to check growth, development, vision, blood counts, and behavior at set intervals. This systematic surveillance allows the team to detect problems early and adjust care plans in time.
Transition planning to adult care
As the child grows, the team should slowly shift responsibilities to the young adult and arrange adult specialists familiar with rare genetic conditions. A written transition plan covering health, education, work, and living arrangements can prevent gaps in care.

Drug treatments

There is no single drug that cures Cohen syndrome. Medicines are used to treat specific problems such as seizures, neutropenia, growth failure, or autoimmune complications. Many dosing details come from U.S. FDA prescribing information for the same drug classes in other conditions, and must always be individualized by a specialist.

Levetiracetam (e.g., Keppra, Spritam) for seizures
Levetiracetam is an anti-seizure medicine often chosen when people with Cohen syndrome develop epilepsy. FDA labels describe it as adjunctive therapy for partial-onset, myoclonic, and generalized tonic-clonic seizures, typically started around 500–1000 mg per day in divided doses in adults, with careful titration and monitoring for mood changes or irritability.
Other antiseizure drugs (e.g., valproate, lamotrigine) when needed
Some individuals need additional or alternative anti-epileptic drugs, selected based on seizure type, side-effect profile, and other health issues. These medications help stabilize brain electrical activity but can cause liver, blood, or skin reactions, so regular blood tests and slow dose adjustments are important.
Somatropin (recombinant human growth hormone) for growth failure
For children with clear growth hormone deficiency, endocrinologists may consider somatropin, a lab-made form of human growth hormone approved for several growth disorders. FDA labels for products such as Genotropin and Nutropin describe daily or weekly subcutaneous injections, carefully adjusted by weight and monitored for side effects like joint pain, glucose changes, or raised pressure inside the skull.
G-CSF (filgrastim) for severe chronic neutropenia
Filgrastim is a granulocyte colony-stimulating factor that helps the bone marrow make more neutrophils. FDA labels for Neupogen and related products show it reduces infection risk in several types of severe chronic neutropenia. Typical dosing is subcutaneous injections adjusted to the lowest dose that keeps neutrophil counts in a safer range, with monitoring for bone pain and spleen size.
Pegylated G-CSF (pegfilgrastim) in selected cases
Pegfilgrastim is a long-acting form of G-CSF given as an occasional subcutaneous injection rather than daily. FDA labeling for Neulasta and similar pegfilgrastim products describes its use mainly in chemotherapy-related neutropenia, but some clinicians may consider it off-label in inherited neutropenia when daily injections are not tolerated, under specialist supervision.
Broad-spectrum antibiotics for serious infections
When a person with Cohen syndrome and neutropenia develops fever or clear signs of infection, doctors often start fast, broad-spectrum antibiotics by mouth or IV, following local guidelines. These medicines do not treat the gene defect, but they are life-saving because they control bacterial infections while neutrophil counts are low.
Prophylactic (preventive) antibiotics in recurrent infections
In some cases of very frequent infections, hematologists may prescribe low-dose daily preventive antibiotics for a period, especially alongside G-CSF therapy. The goal is to reduce hospitalizations and serious infections, balanced against risks such as resistance and gut side effects.
Topical and systemic antifungals for oral and skin infections
Chronic neutropenia can lead to frequent mouth ulcers and fungal infections (e.g., thrush). Doctors may prescribe antifungal lozenges, mouthwashes, or systemic agents if needed. These help control pain and allow better eating and dental hygiene.
Corticosteroids (e.g., hydrocortisone, prednisone) for associated autoimmune disease
Some case reports describe Cohen syndrome co-existing with inflammatory bowel disease or other autoimmune issues. Standard steroid regimens (for example, oral prednisone courses) can reduce inflammation, but long-term use carries risks such as weight gain, osteoporosis, and infection. Doses must follow disease-specific guidelines and be tapered carefully.
Mesalamine and related drugs for inflammatory bowel disease (IBD)
In individuals with confirmed ulcerative colitis or similar conditions, 5-aminosalicylic acid (5-ASA) drugs like mesalamine may be used to calm bowel inflammation. These medicines act mainly inside the gut to reduce inflammatory chemicals, helping control diarrhea, blood in stool, and abdominal pain.
Azathioprine or other immunosuppressants when IBD is severe
If bowel disease is not controlled with first-line drugs, immunosuppressants like azathioprine may be added. They reduce immune over-activity but increase infection risk, which is a special concern in people with neutropenia, so close hematology-gastroenterology cooperation is essential.
Iron and vitamin supplementation for anemia or deficiencies
Some individuals develop anemia or micronutrient deficiencies due to poor intake, malabsorption, or chronic disease. Standard iron, folate, vitamin B12, and vitamin D supplements may be used following lab testing, with doses and durations adjusted to blood test results.
Medications for gastroesophageal reflux and constipation
If reflux or constipation is present, doctors may prescribe acid-reducing drugs or gentle laxatives. These medicines make eating more comfortable, protect the esophagus, and support better nutrition, which is vital for growth and immunity.
Selective serotonin reuptake inhibitors (SSRIs) for anxiety or depression
If an adolescent or adult with Cohen syndrome experiences significant anxiety, obsessive behaviors, or depression, low-dose SSRIs may be considered. These medicines adjust brain serotonin levels and can improve mood and daily functioning, but they require careful monitoring for side effects and interactions.
Stimulant or non-stimulant ADHD medicines in selected cases
When attention-deficit symptoms severely disrupt learning and safety, clinicians may trial ADHD medicines according to general pediatric neurology and psychiatry guidelines. Doses are started very low and increased slowly, watching for appetite loss, blood-pressure changes, or mood shifts.
Pain medicines for musculoskeletal discomfort
Simple pain medicines (such as acetaminophen; sometimes NSAIDs if allowed by the hematologist) may be used for joint pain, scoliosis-related back pain, or G-CSF-related bone pain. The aim is to keep the person active and comfortable, always respecting kidney, liver, and bleeding status.
Topical skin treatments for infections or eczema
Antibacterial or anti-inflammatory skin creams help manage recurrent skin infections or eczema, which may be more frequent with neutropenia. Good skin care helps maintain the barrier function and reduces systemic infection risk.
Bronchodilators and inhaled medicines for respiratory issues
If the person has asthma or recurrent wheeze, inhaled bronchodilators and sometimes inhaled steroids may be used according to asthma guidelines. Keeping airways open and inflammation low reduces hospital visits and supports physical activity.
Emergency medicines (e.g., rescue antibiotics or antipyretics at home)
Some hematology teams provide families with clear plans and prescriptions for “fever protocols,” including rapid access to antipyretics and instructions for when to start or seek IV antibiotics. This is not a cure, but it shortens the time between fever and effective treatment.
Medicines linked to future gene- or cell-based therapies (research stage)
Research into gene repair and advanced cell-based therapies for inherited neutropenias and retinal dystrophies is ongoing, but there are no approved gene therapies specifically for Cohen syndrome yet. Any experimental treatment must be given only in regulated clinical trials with strict safety monitoring.

Dietary molecular supplements

These supplements are examples often discussed in chronic genetic and hematologic conditions; they are not specific cures and must always be checked by the treating team to avoid interactions.

Vitamin D – Supports bone health, immune function, and muscle strength, which is especially important for children with low tone and limited sun exposure. Doses are based on blood levels, often daily or weekly drops or tablets, with monitoring to avoid excess.
Calcium – Works with vitamin D to build and maintain bones. Adequate intake reduces fracture risk, especially if steroids are used or mobility is low. It is usually provided through diet plus supplements if needed, with careful spacing from other medicines to avoid interference.
Iron – If iron deficiency anemia is present, oral iron tablets or syrups replenish stores and improve energy. Doses are weight-based and may cause stomach upset or dark stools, so they are often taken with food or at bedtime.
Folate (vitamin B9) – Supports red-blood-cell production and DNA synthesis. Supplementation is considered when lab tests show low levels or when certain drugs that affect folate metabolism are used.
Vitamin B12 – Another key vitamin for blood and nerve health, especially important if a child has poor intake of animal products or absorption problems. Replacement may be oral or injection-based depending on the cause.
Omega-3 fatty acids – Found in fish oil and some plant oils, omega-3s may support cardiovascular health, brain development, and possibly reduce inflammation. Doses should respect age and weight, and products must be screened for purity.
Multivitamin with trace elements – In children with restricted diets or feeding difficulties, a balanced multivitamin can cover small daily needs for zinc, selenium, and other micronutrients that support immunity and growth.
Probiotics (with medical advice) – Some clinicians consider probiotics to help maintain gut microbiota balance during or after antibiotic courses, possibly reducing diarrhea. Only products with safety data in children and immunocompromised people should be used.
Protein supplements in undernutrition – If dietary intake is low, medical-grade protein formulas or high-energy drinks can support growth and wound healing. These should be prescribed by a dietitian to avoid excess calories and imbalanced nutrition.
Antioxidant-rich diet pattern – Rather than single pills, a diet rich in fruits, vegetables, whole grains, and healthy oils provides a mix of antioxidants that support general health and may benefit the retina and cardiovascular system.

Immunity-booster / regenerative / stem-cell related” drugs or strategies

True “immune boosters” are limited; most options either correct neutropenia, treat infections, or are part of transplant regimens.

Filgrastim (G-CSF) – As noted above, filgrastim directly stimulates neutrophil production in the bone marrow, reducing the duration and severity of neutropenia and infection rates in severe chronic neutropenia.
Pegfilgrastim and biosimilar peg-G-CSF products – Long-acting G-CSF agents act similarly but stay longer in the body, potentially reducing injection frequency. They are mainly used in oncology but represent a “regenerative-type” biologic option for low neutrophil counts under specialist supervision.
Hematopoietic stem cell transplantation (HSCT) protocols
In theory, HSCT could correct severe bone-marrow failure or complex hematologic problems, but it is high-risk and not standard for Cohen syndrome. It involves chemotherapy plus infusion of donor stem cells; any consideration would be in exceptional cases at experienced centers.
Intravenous immunoglobulin (IVIG) in selected immune defects
If a person has proven antibody deficiencies or recurrent severe infections despite appropriate treatment, IVIG can supply pooled antibodies from donors, temporarily improving humoral immunity. Doses and intervals depend on IgG levels and infection pattern.
Biologic agents for associated autoimmune disease
When autoimmune complications such as inflammatory bowel disease are present and not controlled by standard therapies, biologic drugs targeting specific immune pathways may be used following IBD guidelines, not specifically for Cohen syndrome itself. These can be powerful but carry infection and malignancy risks, so decisions are complex.
Future gene- and cell-based therapies (research only)
Experimental approaches such as gene editing, retinal cell transplantation, or advanced stem-cell therapies are being studied in related conditions like inherited retinal dystrophies and congenital neutropenia, but none are established for Cohen syndrome yet. Participation in registered clinical trials is the safest way to access such investigational methods.

Possible surgeries or procedures

Not everyone with Cohen syndrome needs surgery, but some complications may require it.

Strabismus (squint) surgery – If eye misalignment affects vision or causes double vision, ophthalmic surgeons may operate on the eye muscles to improve alignment and binocular function.
Cataract surgery – If lens clouding develops and significantly reduces vision, standard cataract extraction with intraocular lens implantation can be done, with extra attention to retinal status and anesthesia risk.
Orthopedic surgery for severe scoliosis or joint deformities – When bracing and physiotherapy are not enough, spinal fusion or corrective procedures for feet and hips may be needed to improve posture, reduce pain, and protect lung function.
Dental and orthodontic procedures – Extractions, braces, and sometimes minor jaw surgery may be performed to correct severe dental crowding, improve chewing, and prevent gum disease.
Gastrointestinal surgery for complications of IBD – In rare cases with severe IBD or other abdominal complications, surgery may be necessary (for example, to remove a diseased bowel segment), always planned jointly by genetic, hematology, and gastro teams.

Key prevention strategies

These measures help lower complication risks, even though they cannot prevent the genetic condition itself.

Keep all recommended vaccinations up to date (with specialist advice).
Practice strict hand and oral hygiene to reduce infections.
Seek medical attention quickly for fever, mouth ulcers, or unusual tiredness.
Avoid contact with people who have active contagious illnesses when neutrophil counts are low.
Follow dietitian advice to prevent excessive weight gain and manage constipation.
Attend regular eye, blood, and growth check-ups as scheduled.
Use protective equipment and safe environments to reduce falls and injuries.
Avoid unnecessary medicines that can further suppress bone marrow or immune system, unless absolutely needed.
Support mental health with routines, sleep hygiene, and access to counseling when needed.
Provide ongoing education to caregivers and teachers about Cohen syndrome, including emergency plans.

When to see doctors (or go to emergency care)

People with Cohen syndrome should keep regular scheduled visits with their main specialists to monitor growth, development, vision, blood counts, and behavior. However, urgent medical review is needed if there is fever (especially above 38.0°C) in someone known to have neutropenia, new or rapidly worsening breathing trouble, severe abdominal pain, repeated vomiting, seizures, sudden vision changes, unusual sleepiness, or any rapid change in behavior or consciousness. Parents and caregivers should have a written “fever and infection action plan” from the hematology or pediatric team, explaining exactly when to go to the emergency department.

What to eat and what to avoid

Diet must always be adapted to local culture, allergies, and other conditions. These are general, simple ideas.

Helpful to eat (with professional advice):

Plenty of fruits and vegetables of many colors (for vitamins and antioxidants).
Whole grains such as brown rice, oats, or whole-wheat bread to support steady energy and bowel function.
Lean proteins (fish, egg, poultry, legumes) to support growth, immunity, and muscle strength.
Dairy or fortified alternatives (milk, yogurt, cheese) for calcium and vitamin D, if tolerated.
Healthy fats like olive oil, nuts, and seeds in small amounts to support brain and heart health.

Better to limit or avoid (especially with obesity risk):

Sugary drinks and sweets, which add calories without nutrients and worsen weight gain.
Fast foods and deep-fried snacks that are high in saturated fat and salt.
Very salty processed meats and instant foods that contribute to blood-pressure and kidney strain.
Unpasteurized or raw animal products (e.g., raw eggs, undercooked meat) that carry infection risk, especially in neutropenia.
Herbal or “immune-boosting” supplements without medical approval, because they may interact with medicines or affect the liver and kidneys.

Frequently asked questions (FAQs)

Each answer is general information and does not replace personal medical advice.

Is Cohen syndrome curable?
No. Cohen syndrome is a lifelong genetic condition caused by changes in the VPS13B gene. Treatment focuses on managing symptoms, supporting development, and preventing complications rather than removing the underlying gene change.
Can children with Cohen syndrome go to school?
Yes. Many children attend regular or special schools with personalized education plans, extra learning support, and therapies. With the right accommodations, they can learn and participate meaningfully in school life.
Will vision always get worse?
Retinal dystrophy in Cohen syndrome is usually progressive, so night vision and side vision often worsen over time. Regular eye exams, low-vision aids, and environmental adaptations help people use their remaining vision safely and independently.
How dangerous is neutropenia in Cohen syndrome?
Chronic neutropenia increases the risk of infections, especially when counts are very low. With close monitoring, infection-prevention strategies, and timely treatment (including possible G-CSF), many people lead relatively stable lives.
Do all people with Cohen syndrome have seizures?
No. Some individuals develop epilepsy, while others never have seizures. When seizures occur, modern anti-seizure medicines and neurology follow-up can often control them well.
What is life expectancy in Cohen syndrome?
Data are limited because the condition is rare, but many people can reach adulthood, especially when infections and complications are well managed. Severe untreated neutropenia, uncontrolled seizures, or serious organ disease can shorten life, so regular care is vital.
Can parents have more children, and will they all be affected?
Cohen syndrome is usually autosomal recessive, meaning each pregnancy of two carriers has a 25% chance of an affected child, a 50% chance of a carrier, and a 25% chance of neither. Genetic counseling can explain testing options and family planning choices.
Is Cohen syndrome the same in every person?
No. There is wide variation. Some have more severe intellectual disability or vision loss; others have milder learning problems and less obvious obesity. Even within the same family, features can differ.
Can physiotherapy really make a big difference?
Yes. Regular, well-planned physiotherapy improves strength, balance, and endurance, which helps children sit, stand, walk, and participate more in school and play. It does not change the gene, but it changes functional ability.
Are growth hormone injections always needed?
No. Growth hormone is only considered if testing shows true growth hormone deficiency or another approved indication. Many children with Cohen syndrome are simply small; whether to use somatropin must be decided by an experienced endocrinologist.
Is G-CSF safe to use long term in inherited neutropenia?
Long-term G-CSF is used in several types of severe chronic neutropenia with good infection control, but it needs careful dosing, regular blood tests, and monitoring for rare side effects, including bone pain and possible marrow changes. Decisions should involve a hematologist familiar with inherited neutropenia.
Can adults with Cohen syndrome work?
Many adults can do supported or sheltered work, or roles adapted to their abilities, especially when they have had early intervention and ongoing support. Vocational training and social services are helpful.
Does Cohen syndrome affect the heart or lungs?
Some individuals may have heart or respiratory problems, but this is not universal. Regular clinical check-ups and investigations are needed when there are symptoms or abnormal findings.
Is there research or a patient registry for Cohen syndrome?
Yes. Case reports, cohort studies, and reviews are being published, and some countries have registries or research programs for people with rare genetic syndromes, including Cohen syndrome and associated neutropenia. Families can ask their geneticist about local or international research opportunities.
What is the most important thing families can do?
The most important steps are to keep regular contact with a knowledgeable medical team, follow surveillance and treatment plans, act quickly for infections or acute changes, and maintain strong family and social support. This combination protects health and helps the child reach their personal potential.

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.