Cohen-Gibson Syndrome

Other names and type
Causes and mechanisms
Symptoms and signs
Diagnostic tests
Non-Pharmacological Treatments (Therapies and Other Supports)
Drug Treatments (Symptom-Based – Not Disease-Specific)
Dietary Molecular Supplements
Immunity-Booster / Regenerative / Stem-Cell–Related Approaches
Surgeries and Procedures
Ways to Prevent or Reduce Complications
When to See a Doctor
What to Eat and What to Avoid
Frequently Asked Questions (FAQs)

Cohen-Gibson syndrome is a very rare genetic condition. It starts before birth or in early childhood. Children with this syndrome usually grow faster and bigger than other children of the same age. They often have a large head, tall body, and large hands and feet. The syndrome also affects learning and development. Many children have developmental delay and intellectual disability. This means they may sit, walk, talk, and learn later than other children. They may need extra help at school and in daily life.

Cohen-Gibson syndrome can also change the shape of the face and bones. Some children have a curved spine (scoliosis), advanced bone age on X-ray, hernias, or other bone and joint problems. Muscle tone can be low, so they may feel floppy as babies and have trouble walking or running.

Cohen-Gibson syndrome (COGIS) is a very rare genetic overgrowth syndrome. Children are usually bigger than expected from birth or early childhood, with a large head, tall stature, big hands and feet, and bones that look “older” than their real age (advanced bone age). Many have learning or intellectual disability, low muscle tone, scoliosis (curved spine), and hernias. [

The condition is caused by a change (pathogenic variant) in a gene called EED, which is part of the polycomb repressive complex 2 (PRC2). This complex normally helps control how other genes are turned on and off. When EED is faulty, growth-control pathways are disturbed, which leads to overgrowth, skeletal anomalies, and brain development problems. [

Cohen-Gibson syndrome follows an autosomal dominant pattern. That means a single changed copy of EED in each cell is enough to cause the syndrome. Many reported cases are de novo, meaning the variant appeared for the first time in the child and was not inherited from either parent. Because so few patients have been described worldwide, treatment is based mostly on expert opinion and on what works in similar overgrowth and neurodevelopmental disorders.

The cause is a change (mutation) in one copy of a gene called EED. This gene normally helps control how other genes are turned on and off during growth and brain development. When EED does not work properly, growth and development become unbalanced, and the features of Cohen-Gibson syndrome appear.

Other names and type

Doctors sometimes use other names that mean almost the same thing as Cohen-Gibson syndrome. These names come from the gene involved and from how the condition looks in the body.

Some other names or closely related terms are:

EED-related overgrowth
EED-associated overgrowth syndrome
EED-related intellectual disability with overgrowth
COGIS (short form of Cohen-Gibson syndrome)

Cohen-Gibson syndrome is an autosomal dominant genetic overgrowth syndrome. “Autosomal” means the gene is on one of the non-sex chromosomes. “Dominant” means a change in just one copy of the gene is enough to cause the condition.

So, there is one main type of this syndrome, but the signs can be mild in some people and more severe in others. Doctors call this “variable expression”.

Causes and mechanisms

There is one real cause of Cohen-Gibson syndrome: a disease-causing change in the EED gene. The 20 points below describe different details and mechanisms of this same genetic cause. They are not 20 separate outside causes.

Pathogenic variant in the EED gene
The basic cause is a harmful change (pathogenic variant) in the EED gene. This change alters the protein made from the gene so it cannot do its normal job in controlling growth and development.
Autosomal dominant inheritance
The condition follows an autosomal dominant pattern. If a parent has the EED variant, each child has a 50% chance to inherit it. Sometimes no parent is affected and the change happens for the first time in the child (see next point).
De novo mutation (new change) in EED
In many reported children, the EED variant is new in the child and is not seen in either parent. This is called a “de novo” mutation. It happens by chance during the formation of egg or sperm cells or very early after conception.
Missense changes in important parts of EED
Many variants are “missense” changes. This means one amino acid in the protein is swapped for another. When this happens in a critical region of the protein, such as the WD-repeat domain, the protein cannot fold or work correctly.
Loss of EED function (loss-of-function variants)
Some variants stop the EED protein too early or break it badly so it does not work. These are called loss-of-function variants and they reduce the total working EED protein in the cell.
Problems in the PRC2 complex
The EED protein is part of a group of proteins called the polycomb repressive complex 2 (PRC2). If EED is damaged, the whole PRC2 complex does not work well. This affects many genes at the same time.
Reduced H3K27me3 epigenetic mark
PRC2 normally adds a chemical mark called H3K27 trimethylation (H3K27me3) to histone proteins on DNA. EED variants cause lower levels of this mark. Without this mark, certain genes stay too active when they should be quiet.
Abnormal control of growth genes
When H3K27me3 is low, genes that control body growth and bone growth can be wrongly switched on. This leads to tall stature, large head size, and large hands and feet seen in Cohen-Gibson syndrome.
Abnormal control of brain development genes
The same epigenetic problem also affects genes important for brain development and learning. This is one reason why children with this syndrome often have intellectual disability and developmental delay.
Disturbed timing of bone maturation
EED and PRC2 help decide when bones should grow and when they should slow down. When this timing control fails, bone age becomes “advanced” on X-ray, and bones can grow faster or in an unusual shape.
Disturbed spine and long bone development
Changes in growth signals in the skeleton can cause flaring of the long bone ends, curved spine (scoliosis), and other bone shapes that doctors see in X-rays of people with this syndrome.
Abnormal development of facial bones and soft tissues
EED-related growth changes also affect the skull and face bones, plus skin and soft tissues. This causes the typical facial appearance (dysmorphic facial features) that doctors use as a clue to the diagnosis.
Effects on muscle tone (hypotonia)
The same gene changes can influence nerve and muscle development. This leads to low muscle tone (hypotonia), which makes babies feel floppy and may delay sitting, crawling, and walking.
Possible effects on heart development
In some reported people, heart defects or other heart problems have been present. This suggests that abnormal gene control during early heart formation may sometimes be part of this syndrome.
Effects on genitourinary system
Some boys with Cohen-Gibson syndrome have undescended testes (cryptorchidism) or other genitourinary problems, probably linked to abnormal growth signals in these organs during fetal development.
Effects on eye and vision development
Eye problems, such as refractive errors or other eye differences, have been described in some cases. These may come from altered growth and patterning in eye tissues during development.
Epilepsy or seizures in some patients
A few patients with EED-related overgrowth have had seizures or epilepsy. This suggests that disturbed epigenetic control in brain networks can sometimes lead to abnormal electrical activity.
Very early origin during embryo formation
Because EED works very early in embryo growth, the effects of a mutation start when the baby is just a tiny cluster of cells. This early timing explains why so many organs are affected at the same time.
Random chance, not parental behavior
When the mutation is new (de novo), it is not caused by anything the parents did or did not do. It is usually a random event during cell division. This is important for family counselling.
Very low link to environment
At this time, there is no clear proof that food, infections, pregnancy medicines, or other outside factors cause Cohen-Gibson syndrome. It is mainly a genetic, not environmental, condition.

Symptoms and signs

Not every child has every sign. Some signs are obvious, and some are mild and need careful testing to see.

Tall stature for age
Many children are taller than other children of the same age and sex. Their height may be above the 97th percentile on growth charts. This tall growth often starts early in life.
Large head size (macrocephaly)
The head is often larger than average. Doctors measure head size with a tape and plot it on a chart. A large head can be one of the first signs of the syndrome.
Large hands and feet
Hands and feet may be long and bigger than usual for age, sometimes with long slender fingers. This is part of the overgrowth pattern.
Advanced bone age
X-rays of the hand and wrist can show that the bones look older than the child’s actual age. This is called advanced bone age and is common in Cohen-Gibson syndrome.
Developmental delay
Many children sit, crawl, walk, and speak later than other children. They may need physical, occupational, and speech therapy to learn new skills.
Intellectual disability
Learning problems can range from mild to severe. Children may have trouble with memory, problem solving, school work, and daily living skills and need long-term educational support.
Low muscle tone (hypotonia)
Babies may feel floppy when held and may have weak muscles. This can make feeding, moving, and keeping upright more difficult.
Difficulty walking or clumsy movement
Because of hypotonia and bone changes, children may walk later, fall often, or have an unusual way of walking. They may need braces, physiotherapy, or other support.
Curved spine (scoliosis) and other bone problems
The spine may curve to the side (scoliosis), and long bones can have unusual shapes. These changes may worsen over time and sometimes need surgery or bracing.
Distinctive facial features
Many children share certain facial traits, such as a particular shape of the eyes, nose, chin, or forehead. These may be subtle but help genetic doctors think about this diagnosis.
Hernias
Some children have umbilical hernia (at the belly button) or other hernias. In a hernia, tissue pushes through a weak spot in the muscle wall and makes a soft lump.
Joint or limb differences
Features like camptodactyly (permanently bent fingers), joint stiffness, or unusual hand and foot shape can occur. These differences may affect fine motor skills.
Behavioral or emotional challenges
Some children may have anxiety, attention difficulties, or other behavioral issues, often related to developmental and learning problems. Supportive care and special education can help.
Possible seizures or epilepsy
A few reported patients with EED-related overgrowth have had seizures. Not every child will have them, but doctors often watch for spells of staring, shaking, or loss of awareness.
Heart, eye, or genitourinary problems in some cases
Some people have heart defects, eye problems, or issues like undescended testes. These are not present in everyone but are important to look for because they may need treatment.

Diagnostic tests

Because Cohen-Gibson syndrome is very rare, diagnosis usually happens in a specialized clinic with a clinical geneticist. Doctors first look at the child and take a careful history, then use targeted tests to confirm the condition and rule out other overgrowth syndromes.

A. Physical examination

Full physical and growth exam
The doctor measures height, weight, and head size and plots them on standard charts. They also look at body proportions, hands, feet, skin, and general health. Overgrowth plus certain body features point toward EED-related overgrowth.
Detailed craniofacial examination
The face, skull, eyes, nose, mouth, ears, and jaw are examined. Doctors look for patterns of facial features that match published descriptions of Cohen-Gibson syndrome and other overgrowth conditions.
Musculoskeletal and spine exam
The spine is checked for curves, and arms, legs, hands, and feet are examined for unusual shapes or stiffness. The doctor may ask the child to bend forward or walk to see how the spine and joints move.
Neurologic examination
Reflexes, muscle strength, tone, coordination, and balance are tested. This helps find hypotonia, clumsiness, and other nervous-system-related signs that often appear in Cohen-Gibson syndrome.
General systems exam (heart, lungs, abdomen, genitals)
The doctor listens to the heart and lungs, feels the belly for organ enlargement or hernias, and examines the external genitals. This helps detect issues such as heart defects, hernias, or undescended testes.

B. Manual and bedside developmental tests

Developmental milestone assessment
Doctors or therapists ask when the child first smiled, sat, walked, and talked. They may use simple developmental checklists during the visit. Delays in many areas support the possibility of a genetic syndrome.
Standardized developmental testing
Tools such as Bayley scales or similar structured tests (depending on country) are used by psychologists or therapists. These tests measure thinking, language, and motor skills and help show the level of developmental delay or intellectual disability.
Motor and gait assessment by physiotherapy
A physiotherapist watches how the child sits, stands, walks, runs, and uses hands. They may test balance and strength using simple tasks. This helps plan therapy for hypotonia or bone problems.
Behavioral and learning evaluation
Teachers, psychologists, and parents may fill in questionnaires about behavior, attention, and learning. These tools help understand how the syndrome affects school performance and daily life.

C. Laboratory and pathological tests

Basic blood and biochemistry tests
Routine blood counts and chemistry tests can look for other causes of overgrowth or developmental problems, such as hormonal or metabolic conditions. While usually normal in Cohen-Gibson syndrome, they help rule out other diagnoses.
Hormone and metabolic screening (if needed)
If the doctor suspects other disorders (like hormonal imbalances), they may order thyroid tests, growth factor levels, or metabolic screens. These tests help confirm that overgrowth is genetic rather than hormonal.
Chromosomal microarray analysis
This test looks for missing or extra pieces of chromosomes. It is a common first-line genetic test in children with developmental delay and overgrowth. In most Cohen-Gibson patients, the microarray is normal, but it helps rule out other syndromes.
Targeted EED gene sequencing
This is the key confirmatory test. It reads the DNA letters of the EED gene to find pathogenic variants. Finding a known disease-causing variant in EED in a person with typical features confirms the diagnosis.
Multigene overgrowth / intellectual disability panel
Sometimes doctors order a gene panel that checks many genes at once, including EED and other overgrowth genes (such as those linked to Weaver or Sotos syndromes). This is useful when the clinical picture is not perfectly clear.
Whole-exome or whole-genome sequencing
If earlier tests do not show a cause, broad sequencing of many genes (exome or genome) can detect rare EED variants and other genetic conditions. This approach is often used in research or specialized centers.

D. Electrodiagnostic tests

Electroencephalogram (EEG)
If the child has seizures or strange episodes, an EEG checks the electrical activity in the brain. It can show abnormal patterns that support a diagnosis of epilepsy linked to Cohen-Gibson or to another cause.
Nerve conduction studies and electromyography (EMG) – if needed
In children with major muscle weakness or unusual nerve signs, nerve conduction and EMG tests may be done. They measure how well nerves and muscles work. These tests are not always needed but can help rule out other neuromuscular diseases.

E. Imaging tests

Skeletal survey and bone age X-ray
X-rays of the hands, wrists, spine, and other bones can show advanced bone age and typical bone shapes. These imaging findings support the diagnosis of an overgrowth syndrome such as Cohen-Gibson.
Spine X-ray or spine MRI
If scoliosis or other spine issues are suspected, X-rays or MRI scans help see the curve and any bone anomalies in detail. This guides decisions about bracing, surgery, and follow-up.
Brain MRI
A brain MRI may be done to look for structural differences or other causes of developmental delay or seizures. It may be normal or show mild changes, but it helps rule out other brain disorders that can look similar.

Non-Pharmacological Treatments (Therapies and Other Supports)

(All of these are supportive; they do not “cure” the gene change but can improve function and quality of life.)

Early developmental (early-intervention) programs
Early-intervention services start in infancy and focus on motor, language, and social skills with play-based exercises. The purpose is to use the brain’s plasticity to build stronger pathways for movement, communication, and learning. The main mechanism is repeated, structured practice of age-appropriate tasks guided by therapists and parents at home. [
Physiotherapy (physical therapy)
Physiotherapy targets low muscle tone, delayed walking, joint stiffness, and scoliosis-related weakness. The purpose is to improve strength, balance, posture, and walking pattern. Exercises gently load muscles and joints, stimulate motor control pathways, and may slow contractures and spinal curve progression by strengthening the core and postural muscles. [
Occupational therapy (OT)
OT focuses on daily activities such as dressing, feeding, writing, and play. The purpose is to help the child become as independent as possible at home and school. The mechanism is task-specific practice, adaptive grips and tools, and environmental modifications that lower demands while training fine-motor coordination and sensory processing. [
Speech and language therapy
Many children with Cohen-Gibson syndrome have delayed speech or articulation problems. The purpose of speech therapy is to improve understanding, expression, and social communication. Therapists use picture systems, structured language games, and sometimes augmentative and alternative communication (AAC) to build neural pathways for language and interaction. [
Special education and learning support
Individualized education plans (IEP) or similar programs give extra time, simplified instructions, and adapted materials. The purpose is to match teaching style to the child’s cognitive profile. The mechanism is breaking tasks into small steps, repetition, multimodal teaching (visual, auditory, hands-on), and continuous support in mainstream or special schools. [
Behavioral therapy and psychological support
Some children have attention problems, anxiety, or challenging behaviors. Behavioral therapy (for example, cognitive-behavioral strategies and positive reinforcement) helps them learn better coping skills. The mechanism is identifying triggers, teaching replacement behaviors, and rewarding desired actions, which slowly rewires behavior patterns. [
Orthopedic and scoliosis bracing
Before surgery is needed, spinal braces and custom orthotics (shoe inserts, ankle-foot orthoses) can support posture and walking. The purpose is to slow curve progression and reduce pain or fatigue. Bracing works by providing external support and redistributing forces on the spine and lower limbs during growth. [
Physically active lifestyle (safe exercise program)
Supervised swimming, cycling, or adapted sports improve cardiovascular fitness and muscle strength without overloading weak joints. The purpose is to prevent obesity, deconditioning, and respiratory problems. Exercise helps metabolism, improves mood, and supports bone health by mechanical loading of bones during movement. [
Respiratory therapy and airway clearance
If there is pulmonary involvement or weak respiratory muscles, chest physiotherapy, breathing exercises, and sometimes airway clearance devices may be used. The purpose is to prevent recurrent infections and improve ventilation. The mechanism is loosening mucus, improving cough effectiveness, and training respiratory muscles. [
Nutritional counseling
Because some children have feeding difficulties or obesity risk, a dietitian can design a balanced plan with appropriate calories, protein, calcium, and vitamin D. The purpose is to support growth while avoiding excessive weight gain that can worsen joint and spine problems. The mechanism is portion control, nutrient-dense foods, and regular monitoring of weight and BMI. [
Feeding and swallowing therapy
If there is cleft palate, low tone, or swallowing difficulty, feeding therapists help with safe textures, positioning, and oral-motor exercises. The purpose is to ensure enough nutrition without aspiration. Therapy strengthens mouth and throat muscles and teaches compensatory swallow strategies. [
Orthodontic and dental care
Coarse facies, crowded teeth, or mouth breathing can cause dental problems. Regular dental visits, orthodontic assessment, and good oral hygiene help prevent caries and gum disease. Mechanical cleaning, fluoride, and alignment of teeth reduce infection risk and improve chewing and speech. [
Vision and hearing rehabilitation
If cataracts, refractive errors, or hearing loss are present, glasses, low-vision aids, hearing aids, or cochlear implants may be needed. The purpose is to maximize sensory input for learning. These devices work by focusing light or amplifying sound to improve brain interpretation of visual and auditory signals. [
Social skills and communication groups
Group-based training with peers teaches turn-taking, conversation, and emotional understanding. The purpose is to reduce social isolation and improve daily functioning. Repeated practice in a safe environment strengthens social cognition networks and confidence. [
Family counseling and genetic counseling
Because COGIS is genetic and autosomal dominant, parents benefit from counseling about recurrence risks and options for future pregnancies. Family counseling also supports coping and planning for long-term care. The mechanism is providing clear risk information, emotional support, and connection to rare disease networks. [
Sleep hygiene strategies
Children with neurodevelopmental disorders often have sleep disturbance. A consistent routine, quiet dark bedroom, and limiting screens before bedtime can help. Better sleep improves mood, attention, and behavior by stabilizing circadian rhythms and hormone cycles. [
Pain management with non-drug methods
For musculoskeletal pain (from scoliosis or joint stress), heat packs, stretching, massage, and relaxation techniques can relieve discomfort. These methods work by improving blood flow, relaxing tight muscles, and modulating pain signals without drug side effects. [
Assistive devices (wheelchairs, walkers, standers)
If walking is very difficult, assistive devices improve mobility and independence. The purpose is to maintain participation in school and community. Devices reduce energy cost of movement and protect joints and spine from excessive strain. [
Regular multidisciplinary follow-up
Scheduled visits with pediatrics, genetics, neurology, orthopedics, cardiology, pulmonology, and therapies help track growth, spine curves, heart and lung function, and learning. The mechanism is early detection of complications and timely interventions before problems become severe. [
Support groups and rare disease networks
Connecting with other families living with overgrowth and intellectual disability syndromes provides emotional support and practical tips. Shared experience reduces isolation and helps families learn about research trials and expert centers. [

Drug Treatments (Symptom-Based – Not Disease-Specific)

Important: There is no drug approved specifically for “Cohen-Gibson syndrome”. All medicines are used off-label to treat particular symptoms (seizures, spasticity, reflux, constipation, infections, etc.). Exact drug choice and dose must always be decided by the treating specialist.

Below are examples commonly used in similar neurodevelopmental and overgrowth conditions, with evidence from FDA prescribing information and standard pediatric practice.

Levetiracetam (KEPPRA®) – anti-seizure drug
Class: Antiepileptic. Typical oral total dose in older children can reach up to 60 mg/kg/day in divided doses, but the neurologist individualizes the regimen. Purpose: control focal and generalized seizures. Mechanism: modulates synaptic vesicle protein SV2A, reducing abnormal neuronal firing. Common side effects: irritability, fatigue, dizziness, and appetite changes. [
Valproate / Valproic acid (DEPAKENE®, DEPAKOTE®) – anti-seizure and mood stabilizer
Class: Antiepileptic, mood stabilizer. Dosing is weight-based and titrated slowly while monitoring liver function and platelets. Purpose: control generalized seizures, myoclonic seizures, and sometimes difficult focal seizures. Mechanism: increases GABA levels and affects sodium and calcium channels. Side effects: weight gain, tremor, liver toxicity, pancreatitis risk, teratogenicity in pregnancy. [
Baclofen (oral suspension or granules such as FLEQSUVY®, LYVISPAH®) – for spasticity
Class: GABA-B receptor agonist muscle relaxant. Pediatric doses are started low and slowly increased based on response and side effects. Purpose: reduce spasticity, stiffness, and painful muscle spasms in children with significant tone problems. Mechanism: reduces excitatory neurotransmission in the spinal cord. Side effects: drowsiness, weakness, nausea; abrupt withdrawal can cause serious rebound spasticity. [
Diazepam (BENZODIAZEPINE class) – rescue or adjunct for seizures and severe spasticity
Class: Benzodiazepine. Used as intermittent rescue for prolonged seizures or severe muscle spasms, with dose depending on route (oral, rectal, buccal). Purpose: rapid seizure control and muscle relaxation. Mechanism: enhances GABA-A receptor activity. Side effects: sedation, respiratory depression at high doses, tolerance with long-term use. [
Omeprazole (PRILOSEC®) – for reflux and esophagitis
Class: Proton pump inhibitor (PPI). Pediatric doses are usually 0.7–3.5 mg/kg/day, once daily or divided, depending on indication. Purpose: reduce gastric acid, treat gastroesophageal reflux disease (GERD) and protect the esophagus. Mechanism: blocks the H+/K+-ATPase proton pump in stomach parietal cells. Side effects: headache, diarrhea, possible nutrient malabsorption with long-term use. [
H2 receptor blockers (e.g., famotidine) – for milder reflux
Class: H2 receptor antagonist. Dose is weight-based and divided twice daily. Purpose: milder acid suppression in infants or children with reflux symptoms. Mechanism: blocks histamine H2 receptors on gastric parietal cells, lowering acid secretion. Side effects: headache, diarrhea, rare liver enzyme changes. [
Polyethylene glycol 3350 electrolyte solutions (e.g., GoLYTELY®, NuLYTELY®, PLENVU®) – bowel preparation and severe constipation management
Class: Osmotic laxative and bowel cleanser. Purpose: for bowel cleansing before procedures and, in modified lower doses or related PEG-based products, to treat chronic constipation under medical supervision. Mechanism: non-absorbable polymers draw water into the colon, softening stool and increasing stool volume. Side effects: bloating, nausea, electrolyte imbalance if misused. [
Stool softeners and stimulant laxatives (e.g., docusate, senna)
Class: Stool softener / stimulant laxative. Purpose: treat constipation due to low muscle tone, reduced mobility, or medications. Mechanism: docusate increases stool water; senna stimulates colonic motility. Side effects: cramping, loose stools, electrolyte changes with overuse. [
Inhaled bronchodilators (e.g., albuterol) and inhaled corticosteroids (e.g., budesonide) – for pulmonary involvement
Class: Short-acting beta-agonist and inhaled steroid. Purpose: treat wheeze, asthma-like symptoms, and lower airway hyper-reactivity. Mechanism: bronchodilators relax smooth muscle; steroids reduce airway inflammation. Side effects: tremor, tachycardia (beta-agonists) and oral thrush or growth-delay concerns with long-term high-dose steroids. [
Analgesics (paracetamol/acetaminophen, ibuprofen) – pain and fever control
Class: Analgesic/antipyretic and NSAID. Purpose: relieve pain from surgeries, orthopedic issues, or headaches and reduce fever. Mechanism: acetaminophen acts centrally on COX enzymes; ibuprofen inhibits COX-1/COX-2 to reduce prostaglandin production. Side effects: liver toxicity with acetaminophen overdose; gastric irritation and kidney risk with NSAIDs. [
Vitamin D and calcium supplements (pharmaceutical forms)
Class: Vitamin and mineral preparations. Purpose: prevent or treat low vitamin D and support bone health in children with abnormal bone age and reduced mobility. Mechanism: improve calcium absorption and bone mineralization. Side effects: high doses can cause hypercalcemia, nausea, and kidney stones. [
Iron supplements (if iron-deficiency anemia is present)
Class: Oral iron salts. Purpose: treat anemia from poor intake or chronic illness. Mechanism: provide elemental iron for hemoglobin synthesis. Side effects: dark stools, constipation, abdominal discomfort. [
Antibiotics (according to infection and cultures)
Class: Various (penicillins, cephalosporins, macrolides, etc.). Purpose: treat bacterial respiratory, urinary, skin, or surgical-site infections, which may be more frequent in immobilized or medically complex children. Mechanism: inhibit bacterial cell wall or protein synthesis. Side effects: allergy, diarrhea, microbiome disturbance. [
Bronchodilator nebulizer solutions
Used in children with recurrent chest infections or airway obstruction. Purpose: quickly open airways during acute episodes. Mechanism and side effects are similar to inhaled short-acting beta-agonists; dosing is weight- and age-based under physician guidance. [
Melatonin (where licensed as a drug)
In some countries, melatonin is a regulated medicine for insomnia in children with neurodevelopmental disorders. Purpose: improve sleep onset and quality. Mechanism: mimics natural melatonin to shift circadian rhythm. Side effects: morning drowsiness, vivid dreams, rare mood changes. [

(Further drug choices—such as ADHD medications, SSRIs for anxiety/depression, or more advanced antiepileptics—are possible but must be highly individualized and are not specific to Cohen-Gibson syndrome.)

Dietary Molecular Supplements

Always discuss supplements with the treating team; some interact with prescription drugs.

Vitamin D3 – supports bone mineralization, muscle function, and immune health. Dose is age- and weight-based (often 400–1000 IU/day in children, higher if deficient), as prescribed. It works by increasing calcium absorption from the gut and regulating bone turnover. [
Calcium – taken together with vitamin D if intake from food is low. Calcium provides the mineral building blocks for bones, which is important in children with advanced bone age and skeletal deformities. Excess doses can cause constipation and kidney stones. [
Omega-3 fatty acids (EPA/DHA) – may support heart health, brain function, and reduce low-grade inflammation. Typical pediatric doses are calculated from body weight. Omega-3s integrate into cell membranes and modulate inflammatory signaling pathways. Side effects: fishy aftertaste, mild GI upset, and bleeding risk at high doses. [
Multivitamin with trace minerals – ensures adequate intake of vitamins A, B-complex, C, E, zinc, and selenium when appetite is poor or diet is restricted. These micronutrients support energy metabolism, immune function, and antioxidant defense. Over-supplementation should be avoided to prevent toxicity. [
Probiotics – helpful in some children with chronic constipation, diarrhea, or frequent antibiotic use. They work by modifying gut microbiota, improving barrier function, and regulating local immune responses. The strain and dose must be chosen carefully based on age and condition. [
Protein supplements (whey or plant-based) – used when growth or muscle mass is poor and normal diet is not enough. Protein supplies amino acids necessary for muscle, bone, and tissue repair. Dietitians calculate safe doses to avoid kidney overload. [
Fiber supplements (psyllium or inulin) – added when natural fiber intake is low and constipation is a major problem. Fiber increases stool bulk and water content, stimulating peristalsis. Adequate fluid intake is vital to prevent blockage. [
Antioxidant vitamins (C and E) in appropriate doses – may support general cellular protection against oxidative stress related to chronic illness. They donate electrons to neutralize free radicals, but high doses are not routinely recommended in children without clear deficiency. [
Coenzyme Q10 – sometimes used off-label for mitochondrial or neuromuscular conditions to support cellular energy production. It participates in electron transport in mitochondria. Evidence in Cohen-Gibson is lacking; use should be specialist-guided. [
Specialized formulas or tube-feeding formulas – for children with severe feeding problems, high-calorie or peptide-based formulas provide balanced macronutrients and micronutrients in an easy-to-absorb form. Nutrition teams choose formula composition and rate based on growth charts and lab markers. [

Immunity-Booster / Regenerative / Stem-Cell–Related Approaches

At present, there are no approved stem-cell or gene-therapy drugs specifically for Cohen-Gibson syndrome. The following are general concepts or supportive approaches used in complex pediatric disorders; they are not established, routine treatments for COGIS.

Routine vaccinations (immunization schedule)
The strongest immune “booster” is staying up-to-date with standard vaccines (plus any extra vaccines recommended for medically complex children). Vaccines train the immune system to recognize pathogens safely, preventing serious infections that can worsen overall health. [
Seasonal influenza and pneumococcal vaccines
Extra focus on flu and pneumococcal vaccination is important if there is chronic lung disease, scoliosis affecting breathing, or frequent hospitalizations. Preventing respiratory infections reduces hospital stays and long-term lung damage. [
Intravenous immunoglobulin (IVIG) – only if documented immune deficiency
IVIG is a purified antibody preparation used in some children with proven antibody deficiency or certain autoimmune problems. It works by supplying pooled antibodies and modulating immune responses. It carries risks (infusion reactions, thrombosis) and is not routine for Cohen-Gibson without clear indication. [
Experimental gene-based or epigenetic therapies (research only)
Because COGIS involves EED and PRC2, future therapies might target histone methylation or other epigenetic pathways. For now, such work is in early research stages in related overgrowth and cancer contexts, not in standard care for children with Cohen-Gibson syndrome. [
Bone-marrow or stem-cell transplantation – not standard for COGIS
Stem-cell transplant is used for certain bone-marrow failure or immunodeficiency syndromes, but Cohen-Gibson is primarily a growth and developmental disorder without a known bone-marrow defect. Transplant is therefore not recommended unless another separate indication is present. [
Healthy lifestyle to support natural immunity
Adequate sleep, balanced diet, physical activity, and minimizing chronic stress support the body’s own immune system. These simple measures help reduce infection frequency and improve resilience, even though they do not “fix” the gene change. [

Surgeries and Procedures

Scoliosis corrective surgery (spinal fusion)
When spinal curves are severe or rapidly progressing, orthopedic surgeons may perform spinal fusion or growing-rod surgery. The goal is to straighten the spine, prevent further curve progression, protect lung function, and reduce pain. Metal rods, screws, and bone grafts stabilize the vertebrae. [
Umbilical or inguinal hernia repair
Hernias are repaired with small incisions to return organs to their correct position and close or reinforce the muscle defect. This prevents incarceration or strangulation of the bowel and relieves discomfort or visible bulging at the umbilicus or groin. [
Cleft palate repair
If a cleft palate is present, surgical closure improves feeding, speech, and reduces ear infections. Surgeons reposition and suture muscles and mucosa in the palate to create a functional separation between nose and mouth. [
Cardiac surgery for congenital heart defects
Some children with related overgrowth syndromes have heart defects that require repair (for example, septal defects or valve problems). Procedures vary from catheter-based closure to open-heart surgery. The aim is to normalize blood flow, prevent heart failure, and improve long-term survival. [
Orthopedic surgery for limb or hip deformities
If hip dislocation, severe contractures, or foot deformities prevent standing or walking, surgery may realign bones, lengthen tendons, or stabilize joints. The mechanism is mechanical correction to improve biomechanics, relieve pain, and support function when physiotherapy and bracing are insufficient. [

Ways to Prevent or Reduce Complications

Regular growth and spine monitoring with X-rays when needed.
Maintaining a healthy weight to reduce pressure on joints and lungs.
Early treatment of respiratory infections to avoid pneumonia.
Dental hygiene and regular dentist visits to prevent chronic oral infections.
Safe home environment to reduce falls (good lighting, remove tripping hazards).
Vaccination according to national schedule and any extra specialist advice.
Adequate calcium and vitamin D to support bones.
Good sleep habits to improve mood, learning, and immune function.
Early developmental and educational support to maximize skills.
Keeping detailed medical records and sharing them with all specialists. [

When to See a Doctor

You should seek medical care urgently (emergency) if the child has:

Trouble breathing, blue lips, or very fast breathing.
A seizure lasting more than 5 minutes or repeated seizures without full recovery.
Sudden severe back pain with weakness or loss of bladder/bowel control.
Very high fever, confusion, or unusual sleepiness.

You should see the specialist soon (within days) if you notice:

Rapid change in spine curve, new limp, or difficulty walking.
New or worsening headaches, vomiting, or vision changes.
Unexplained weight loss, poor appetite, or swallowing problems.
Behavior changes, regression of skills, or new learning difficulties.

Regular scheduled visits with pediatrics, genetics, neurology, orthopedics, cardiology, pulmonology, and therapies are also important, even when the child seems “stable,” to catch hidden complications early. [

What to Eat and What to Avoid

Eat: Balanced meals with fruits, vegetables, whole grains, and lean proteins to support growth and immunity.
Eat: Adequate dairy or alternatives for calcium, plus vitamin D as advised.
Eat: Enough fiber (whole grains, beans, fruits, vegetables) to prevent constipation if tolerated.
Eat: Healthy fats (olive oil, nuts, seeds, oily fish where safe) for brain and heart health.
Eat: Small, frequent meals if large meals cause reflux or fatigue.
Avoid: Excess sugary drinks and junk foods that promote obesity and dental caries.
Avoid: Very salty, processed foods that can affect blood pressure and kidney load.
Avoid: Over-eating large portions that strain joints and worsen reflux.
Avoid: Unproven “miracle” diets or extreme restrictions that risk malnutrition.
Avoid: Supplements or herbal remedies without discussing them with the medical team, especially when taking prescription drugs. [

Frequently Asked Questions (FAQs)

Is Cohen-Gibson syndrome curable?
No. It is a lifelong genetic condition. Current care focuses on managing symptoms, supporting development, and preventing complications, not on changing the EED gene itself. [
Will every child have the same severity?
No. The syndrome has variable expressivity. Some children walk and attend mainstream school with support, while others have more severe physical and cognitive challenges. [
How is Cohen-Gibson syndrome diagnosed?
Doctors combine clinical examination (overgrowth, facial features, skeletal signs) with genetic testing, usually exome or targeted panel sequencing, to identify an EED variant. [
Can parents be carriers without symptoms?
Sometimes a parent carries the EED variant with mild or unrecognized signs; in many cases the variant is de novo. Genetic counseling and parental testing clarify the recurrence risk. [
Does overgrowth always mean tall adult height?
Not always. Overgrowth tends to be most obvious in childhood. Final height depends on many factors, including family height, nutrition, and hormonal status. [
Can children with Cohen-Gibson go to regular school?
Many can, with special education supports, classroom accommodations, and therapy. Others may benefit from special schools. School placement should be individualized. [
Is there a higher risk of tumors or cancers?
Current case reports are too few to define a clear tumor risk. Unlike some other overgrowth syndromes, no strong cancer pattern has been documented yet, but long-term data are limited. [
What specialists should be involved?
Typically a team including pediatrics, clinical genetics, neurology, orthopedics, cardiology, pulmonology, ophthalmology, ENT, rehabilitation medicine, nutrition, psychology, and special education. [
Can physiotherapy and OT really change the outcome?
Yes. They cannot change the gene, but they can significantly improve mobility, independence, communication, and quality of life, especially when started early and continued regularly. [
Are stem-cell or gene therapies available now?
No approved stem-cell or gene therapies exist for Cohen-Gibson syndrome at this time. Any offers of such treatment outside well-regulated clinical trials should be viewed with extreme caution. [
Can siblings be tested?
If a pathogenic EED variant is confirmed in one child, testing of siblings can be discussed with a genetics team, especially if there are mild or unclear signs. Testing healthy minors should follow local ethical guidelines. [
How often are follow-up visits needed?
Frequency depends on age and severity, but many children need at least yearly reviews with genetics and more frequent visits to therapies, orthopedics, and other specialists during growth. [
What is the life expectancy?
Long-term data are limited because only a small number of patients have been reported. With good management of spine, heart, lungs, and infections, many children may reach adulthood, but precise statistics are not yet available. [
Is pregnancy possible in adults with Cohen-Gibson syndrome?
In principle, yes, but every case must be individually assessed. Adults with Cohen-Gibson syndrome have a 50% chance of passing the variant to each child. High-risk obstetrics and genetics input are essential. [
Where can families find support and information?
Rare disease portals such as GARD, Orphanet, patient organizations for overgrowth and intellectual disability syndromes, and clinical genetics centers provide updated information, social support, and links to research.

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.