Coloboma, Congenital heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies Syndrome

Other names
Types
Causes
Symptoms
Diagnostic tests
Non-Pharmacological Treatments (Therapies and Other Supports)
Drug Treatments (Symptom-Based, Evidence-Informed)
Dietary Molecular Supplements (Supportive, Not Curative)
Immunity-Booster, Regenerative and Stem-Cell-Type Treatments
Surgical Treatments
Prevention and Risk Reduction
When to See a Doctor Urgently
What to Eat and What to Avoid
Frequently Asked Questions (FAQs)

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome is usually called CHIME syndrome. It is a very rare genetic condition that is present from birth and affects many parts of the body at the same time. The name “CHIME” comes from the first letters of the main problems: Coloboma (eye gap), Heart defects, Ichthyosiform dermatosis (dry, scaly skin rash), Mental / intellectual disability, and Ear anomalies.MalaCards+1

CHIME syndrome is a very rare genetic syndrome. The name comes from the main problems: Coloboma (a gap in part of the eye), Heart defects (congenital heart disease), Ichthyosiform dermatosis (thick, scaly skin), Mental / intellectual disability, and Ear anomalies (unusual ear shape and often hearing loss). Children may also have seizures, feeding problems, and growth delay.DoveMed+4NCBI+4Orpha+4

CHIME syndrome is usually caused by harmful changes (mutations) in a gene called PIGL. This gene helps make “GPI anchors”, tiny structures that attach many important proteins to the cell surface. When PIGL does not work properly, many organs that depend on these proteins – like skin, brain, eyes, heart and ears – do not develop normally. The condition is usually autosomal recessive, which means a child gets one changed copy of the gene from each parent.SciELO+4PMC+4University of Chicago Genetic Services+4

Children with this syndrome often have eye changes that affect vision, heart defects that may change blood flow, a special wandering (migratory) dry skin rash, learning and development problems, and unusual ear shape with hearing loss. Doctors now know that the main cause is a change (mutation) in a gene called PIGL, which is important for making a special “anchor” molecule (GPI anchor) on the surface of many cells.PubMed+1

CHIME syndrome is autosomal recessive. This means a child is affected when they receive one faulty copy of the gene from each parent. The parents usually do not have symptoms and are “carriers.” Only a very small number of patients have been reported in the medical literature, so almost everything we know comes from single case reports and small case series.NCBI+1

Other names

Doctors and researchers use several other names for this same syndrome. All these names refer to the same basic condition:

CHIME syndrome – the short name built from the main features.MalaCards+1
Zunich–Kaye syndrome – named after the first doctors who described it in 1983.University of Chicago Genetic Services+1
Zunich neuroectodermal syndrome – “neuroectodermal” means it affects tissues that form the brain, skin, and sense organs.NCBI+1
Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome – a long descriptive name used in some genetic databases.UniProt+1
PIGL-related congenital disorder of glycosylation (PIGL-CDG) – a name that points to the PIGL gene and the problem with sugar attachment (glycosylation) to proteins.Orpha+1

All these names describe the same core syndrome; “CHIME syndrome” is the most common name in everyday medical use.MalaCards+1

Types

There is no formal official “type 1 / type 2” system for CHIME syndrome. Because it is so rare, doctors instead describe patterns of how symptoms show up. The list below uses simple “types” only as a practical way to think about the disease in the clinic.MalaCards+1

Classic CHIME pattern
This pattern shows all five key features: eye coloboma, heart defect, migratory ichthyosiform skin rash, moderate to severe intellectual disability, and ear anomalies with hearing loss. Many early published cases had this classic picture.NCBI+1
Mild or partial CHIME pattern
Some children have the typical skin rash and developmental delay but only very small heart problems or subtle eye changes. They still have a PIGL gene mutation but the outward signs can be less severe. This has been reported in more recent case descriptions.Wiley Online Library+1
Skin-dominant pattern
In a few children, the most visible problem is the severe migratory ichthyosiform dermatosis. It may cover large areas of the body and move from place to place, while the eye or heart findings are milder or sometimes found only on careful testing.DermaCompass+1
Neurologic-dominant pattern
Some patients mainly show seizures, significant intellectual disability, and hearing loss. In these children, the skin rash may fade with age or be less intense, so the brain and nerve system problems are more obvious to the family and doctors.NCBI+1
Overlap pattern with other ectodermal / glycosylation disorders
Because PIGL is part of the GPI-anchor pathway, its problems can overlap with other congenital disorders of glycosylation and ectodermal dysplasias. In these cases, the child looks partly like CHIME syndrome and partly like other similar rare conditions, which can make diagnosis more difficult.Orpha+1

Causes

In reality, one main biological cause is known: harmful changes in the PIGL gene. The 20 items below break this main cause into smaller parts: genetic factors, risk factors, and body mechanisms that help explain why the syndrome looks the way it does.PubMed+1

Pathogenic PIGL gene mutation
The primary cause is a disease-causing mutation in both copies of the PIGL gene. This gene helps make GPI anchors, which are “hooks” that hold many proteins on the outer surface of cells. When PIGL does not work, many anchored proteins cannot attach correctly.PubMed+1
Autosomal recessive inheritance
The child inherits one faulty PIGL gene from each parent. Each parent is usually healthy but carries one changed copy. When both parents are carriers, there is a 25% chance in each pregnancy that the baby will have the syndrome.MalaCards+1
Homozygous PIGL variants
In some families, the child has the same mutation in both gene copies (homozygous). This can happen when parents are related (consanguineous), increasing the chance that both carry the same rare mutation.ResearchGate+1
Compound heterozygous PIGL variants
In other children, each copy of PIGL carries a different mutation (compound heterozygous). Together, these two different changes still make the gene work poorly and lead to CHIME syndrome.PubMed+1
Disrupted GPI-anchor biosynthesis
PIGL normally removes an acetyl group during an early step in building the GPI anchor. When this step fails, the whole anchor cannot form properly, and many cell-surface proteins are reduced or mis-placed.PubMed+1
Abnormal cell signaling on the skin surface
Many GPI-anchored proteins sit on skin cells and help them grow, stick together, and shed in a normal way. When these proteins are reduced, the skin may become very dry, scaly, and inflamed, causing the migratory ichthyosiform dermatosis.DermaCompass+1
Abnormal development of eye tissues (coloboma)
During early pregnancy, the eye forms as a cup that must close fully. Faulty cell-surface signaling due to PIGL mutations may disturb this closing step, leaving a gap called a coloboma in the iris, retina, or optic nerve.NCBI+1
Abnormal heart formation (congenital heart disease)
The heart forms from simple tubes that fold and divide into chambers and valves. When surface proteins that guide these movements are missing or reduced, structural heart defects like septal defects or valve problems can appear in the baby.MalaCards+1
Disturbed brain and nerve development
The brain and spinal cord depend on precise signaling between young nerve cells. A shortage of GPI-anchored proteins can change how these cells grow, connect, and migrate, which likely contributes to seizures and intellectual disability.PubMed+1
Abnormal development of the ear and hearing system
Structures of the outer and middle ear need normal skin, cartilage, and bone growth. Abnormal GPI-dependent signaling may change ear shape and the ear canal skin, leading to ear anomalies and conductive hearing loss.MalaCards+1
Ectodermal dysplasia mechanism
CHIME is classed as an ectodermal dysplasia, meaning tissues that come from the ectoderm layer (skin, hair, nails, sense organs) develop abnormally. The PIGL defect appears to disturb several ectoderm-derived tissues at once.GARD Information Center+1
General congenital disorder of glycosylation (CDG) effect
PIGL-related CHIME syndrome is grouped as a congenital disorder of glycosylation, where sugar-attachment to many proteins is abnormal. This broad effect can disturb multiple organs at the same time, which matches the complex CHIME picture.Orpha+1
Reduced GPI-anchor markers (laboratory evidence)
In patient cell lines, levels of GPI-anchored markers such as CD59 and FLAER binding are reduced, showing that the basic biochemical pathway is truly affected and supporting the link between the gene defect and the clinical syndrome.PubMed
Possible founder mutations in some families
Some families may share the same PIGL mutation, suggesting a founder effect, where a rare mutation in distant ancestors is passed down through generations. This can raise the chance of CHIME in certain small populations.Human Disease Genes+1
Consanguinity (parents related by blood)
When parents are cousins or otherwise related, they are more likely to both carry the same rare PIGL mutation, increasing the risk that a child will inherit two faulty copies and develop CHIME syndrome.GARD Information Center+1
De novo (new) PIGL mutations in a parent’s egg or sperm
In some families, a PIGL mutation can appear for the first time in the egg or sperm of a parent. That parent may be healthy but becomes a carrier, and if the other parent is also a carrier, their children can be affected.PubMed+1
Limited protective pathways
Because GPI anchors affect many proteins, the body may have few backup systems to compensate when PIGL is not working. This lack of backup makes the developing fetus more vulnerable to the effects of the gene defect.Orpha+1
Genetic chance in small families
In small families with several carrier members, simple chance (Mendelian inheritance) can lead to more than one affected child, giving the impression of a strong “family cause” even though the underlying mechanism is still recessive inheritance.MalaCards+1
Unknown modifier genes
Different patients with the same PIGL mutation can have different severity. This suggests that other genes, not yet clearly known, may change how strong the symptoms are. These extra genes are called modifier genes.Human Disease Genes+1
Environmental factors for specific features (not proven main cause)
General pregnancy factors (such as infections, medicines, or poor nutrition) can affect eye or heart development in any baby, but they have not been proven as main causes of CHIME syndrome itself. They may, however, add to the severity of heart or growth problems in an already genetically affected fetus.MalaCards+1

Symptoms

Because the syndrome affects many organs, children can have a wide range of signs and symptoms. Not every child will have all of them, but most have several of the key features listed here.MalaCards+1

Eye coloboma and vision problems
A coloboma is a gap or notch in structures of the eye, such as the iris, retina, or optic nerve. It can cause blurred vision, missing parts of the visual field, and sensitivity to light. Sometimes it is noticed soon after birth when the pupil looks unusually shaped.NCBI+1
Congenital heart defect
Many children have a heart problem present from birth, such as a hole between chambers or valve abnormalities. This can lead to a heart murmur, fast breathing, poor feeding, or poor weight gain in infancy. Some defects are mild; others may need surgery.MalaCards+1
Migratory ichthyosiform skin rash
The skin is often very dry, scaly, and red. The rash can move from one body area to another over time (“migratory”). It often starts in the first weeks of life and can flare with infections or fever.DermaCompass+1
Frequent skin infections or irritation
Cracked or scaly skin makes it easier for germs to enter. Children may have repeated skin infections, oozing areas, or discomfort that needs gentle skin care and sometimes antibiotics.DermaCompass+1
Intellectual disability and developmental delay
Most children have learning difficulties that range from moderate to severe. They may sit, walk, and talk later than other children and often need special education support and therapies to help learning and daily skills.MalaCards+1
Speech and language delay
Many children speak late or use fewer words than expected. Hearing loss and brain development differences both contribute. Speech therapy can help improve communication over time.Global Genes+1
Seizures (epilepsy)
Some patients develop seizures, which may worsen with high temperature or environmental heat. Seizures can appear as staring spells, jerking, or loss of awareness, and usually need long-term neurologic care.Springer+1
Ear shape anomalies
The ears may be low-set, small, or have unusual folds of cartilage. These changes are often visible on simple inspection and are one of the clues that suggest a syndromic condition.MalaCards+1
Conductive hearing loss
Because the outer and middle ear are affected, sound does not travel to the inner ear normally. Children may not react to sounds, may turn the head to one side to listen, or may need hearing aids after testing.Global Genes+1
Distinctive facial features
Some children have a broad flat nasal bridge, widely spaced eyes, a short space between nose and upper lip, and full lips. These features are subtle but can help experienced clinicians recognize the pattern.Springer+1
Feeding difficulties in infancy
Babies may have poor sucking, trouble coordinating swallowing, or get tired quickly due to heart problems or low muscle tone. This can lead to slow weight gain and may require feeding support.MalaCards+1
Poor growth or short stature
Some children grow more slowly than expected in height and weight. Reasons include heart disease, feeding problems, and the underlying genetic condition.MalaCards+1
Genitourinary anomalies
A few patients have kidney or urinary tract problems, such as hydronephrosis (swollen kidney), or differences in the shape of the uterus in girls. These may be found on ultrasound.Springer+1
Behavioral challenges
Because of intellectual disability, hearing problems, and seizures, some children have hyperactivity, frustration, or difficulty with social interaction. Structured support and consistent routines can help.Global Genes+1
Wide-based or unsteady gait
When children start walking, some have an unsteady or wide-based gait. This may be due to low muscle tone, balance problems, or brain differences and often improves with physiotherapy but may not fully normalize.Springer+1

Diagnostic tests

Doctors diagnose CHIME syndrome by combining the clinical picture with special tests. Because this is a very rare condition, genetic testing is important to confirm the diagnosis and to rule out other similar syndromes.MalaCards+1

Physical exam–based tests

Full general physical examination
The doctor looks at the child’s overall growth, body proportions, and vital signs. They check the skin, eyes, heart, lungs, abdomen, joints, and nervous system. This helps identify the combination of features (skin rash, heart murmur, facial features, developmental level) that suggests a multisystem genetic syndrome.MalaCards+1
Detailed skin examination
The dermatologist studies the pattern, color, and texture of the ichthyosiform rash. The “migratory” behavior, where the rash moves across the body over time, is very characteristic and can raise suspicion for CHIME syndrome specifically.DermaCompass+1
Eye examination with light and ophthalmoscope
An eye doctor (ophthalmologist) uses a light and ophthalmoscope to see the front and back of the eye. They look for a gap in the iris or retina that confirms a coloboma and check how much it affects vision.NCBI+1
Cardiac auscultation and cardiovascular exam
Using a stethoscope, the clinician listens for heart murmurs, irregular rhythms, or extra sounds that may indicate congenital heart disease. They also check pulses, blood pressure, and signs of heart failure such as swelling or liver enlargement.MalaCards+1

Manual / bedside functional tests

Basic vision testing (age-appropriate charts)
Simple tools like picture charts, light tracking, or letter charts (in older children) are used to check how well each eye sees. The doctor may also test visual fields to see if the coloboma is causing blind spots.MalaCards+1
Bedside hearing tests and tuning fork tests
Simple bedside tests, such as whispering at different distances or using tuning forks (Rinne and Weber tests), help show if hearing loss is present and if it is mainly conductive (outer/middle ear problem), which is typical for CHIME syndrome.Global Genes+1
Developmental screening assessments
Doctors and therapists use simple checklists or play-based tools to see how the child moves, speaks, understands, and interacts compared with other children the same age. This helps grade the level of developmental delay or intellectual disability.GARD Information Center+1
Anthropometric measurements
Repeated measurements of weight, height, and head circumference, plotted on growth charts, help show patterns of growth delay, microcephaly (small head), or disproportionate growth linked to the syndrome.MalaCards+1

Laboratory and pathological tests

Basic blood tests (CBC and metabolic panel)
A complete blood count and metabolic tests look for anemia, infection, liver or kidney problems, or electrolyte changes. While these are not specific for CHIME syndrome, they help rule out other causes of rash, seizures, or growth problems.Monarch Initiative+1
Liver and kidney function tests
Because some patients have genitourinary or metabolic issues, doctors check liver enzymes, kidney markers, and electrolytes. Abnormal results may guide supportive treatment and further imaging.MalaCards+1
Skin biopsy with histology
A small sample of skin is taken under local anesthesia and examined under a microscope. In CHIME syndrome, the biopsy can show specific patterns of scaling and inflammation that support ichthyosiform dermatosis and help exclude other skin diseases.DermaCompass+1
Flow cytometry for GPI-anchor markers (CD59, FLAER)
In research or specialized centers, blood cells from the patient are tested for markers that depend on GPI anchors. Reduced levels of markers like CD59 or FLAER binding confirm that the GPI-anchor pathway is disturbed, supporting a PIGL-related disorder.PubMed+1
Molecular genetic testing of the PIGL gene
DNA from blood or saliva is sequenced to look for mutations in the PIGL gene. Finding biallelic pathogenic variants (two harmful changes) confirms the diagnosis of CHIME syndrome and allows genetic counseling for the family.PubMed+1

Electrodiagnostic tests

Electrocardiogram (ECG / EKG)
Small stickers on the chest and limbs record the electrical activity of the heart. The ECG can show rhythm problems or effects of structural heart defects and helps guide further cardiology care.MalaCards+1
Electroencephalogram (EEG)
In children with seizures, electrodes on the scalp record brain waves. The EEG can show abnormal patterns that confirm epilepsy and help choose the best anti-seizure medicines.Springer+1
Auditory brainstem response (ABR) testing
ABR measures how sound signals travel from the ear to the brainstem. It is especially useful in young or non-verbal children, and helps confirm the type and degree of hearing loss, which is common in CHIME syndrome.Global Genes+1

Imaging tests

Echocardiogram (heart ultrasound)
This painless ultrasound test shows moving pictures of the heart. It reveals holes between chambers, valve defects, or abnormal blood flow. It is the main imaging tool to define congenital heart disease in CHIME syndrome.MalaCards+1
Brain MRI
Magnetic resonance imaging of the brain looks for structural changes such as abnormal cortical development, white-matter changes, or other features that may explain seizures and intellectual disability. It also helps exclude other syndromes with similar symptoms.Monarch Initiative+1
Orbital and eye imaging (OCT or ocular ultrasound / MRI)
Specialized imaging of the eyes, such as optical coherence tomography (OCT), ultrasound, or MRI of the orbits, can show the size and exact location of the coloboma and any retinal or optic nerve involvement that affects vision.NCBI+1
Temporal bone CT or MRI and renal / pelvic ultrasound
CT or MRI scans of the temporal bones (around the ear) can reveal structural ear anomalies that cause conductive hearing loss. Ultrasound of the kidneys and pelvis can detect associated genitourinary malformations reported in some patients.Springer+1

Non-Pharmacological Treatments (Therapies and Other Supports)

Below are key non-drug treatments. In real life, doctors choose a mix that fits each child’s exact problems.

Structured skin-care program
A daily skin-care routine is very important, because ichthyosiform dermatosis makes the skin dry, thick, and cracked. Parents are taught to give short lukewarm baths, pat the skin dry, and quickly apply thick moisturizers (emollients) over the whole body. Gentle cleansing and regular removal of loose scales can reduce itching and risk of infection. The purpose is to keep the skin soft, protect the skin barrier, and prevent painful fissures. The mechanism is simple: water plus moisturizers lock moisture in and reduce water loss from the skin.
Bath oils and wet-wrap therapy
Some children benefit from adding medical bath oils or using “wet wraps” (moisturizer plus damp bandages, then dry layer) on the worst areas. This therapy helps soften thick scales and allows creams to penetrate better. Wet wraps also cool itchy skin and reduce scratching. The goal is to quickly calm severe flares and help healing of cracked areas. The mechanism is enhanced skin hydration and mild occlusion, which supports repair of the outer skin layer (stratum corneum).
Physiotherapy (physical therapy)
Low muscle tone, seizures, or heart disease can make movement hard. A physiotherapist designs play-based exercises to improve strength, balance, and coordination. Sessions may include stretching, supported standing, walking practice, and breathing exercises. The purpose is to support motor milestones, prevent joint stiffness and contractures, and keep the child as active as safely possible. The mechanism is repeated, guided movement that builds muscles and trains the brain–muscle connection (neuro-muscular plasticity).
Occupational therapy
Occupational therapists help the child learn daily skills such as holding a spoon, grasping toys, dressing, or using simple tools. They may suggest special grips, adapted cutlery, or seating supports. The purpose is to increase independence and reduce caregiver burden. The mechanism is task-specific practice: breaking complex actions into small steps so the child’s brain and hands learn together.
Speech and language therapy
Intellectual disability, hearing loss and seizures can delay speech. A speech therapist assesses understanding and expression, then uses pictures, gestures, sign language, or communication devices. Parents are trained to use simple, clear language and repeat key words. The purpose is to improve communication, reduce frustration and support social interaction. The mechanism is frequent, structured practice of language pathways in the brain, using visual and auditory cues.
Special education and early stimulation programs
Many children need special education, starting as early as possible. Teachers use simple, step-by-step tasks, visual schedules, and lots of repetition. Learning goals are realistic and individual. The purpose is to help children reach their best level of academic and daily-life skills. The mechanism is long-term, tailored teaching that matches the child’s learning pace and strengths, helping the brain build stronger networks for attention, memory and problem-solving.
Hearing rehabilitation (hearing aids and speech reading)
Ear anomalies and conductive hearing loss are common. After hearing tests, ENT doctors and audiologists can fit hearing aids or, in some cases, bone-anchored hearing devices. Therapists then teach the child and family how to use and care for them, and how to use lip-reading and visual cues. The purpose is to maximize hearing and language development. The mechanism is amplification of sound and training the brain to use clearer auditory input.
Low-vision support and eye protection
Coloboma can reduce vision or give blind spots. Low-vision specialists suggest large-print books, high-contrast toys, good lighting and magnifiers. Sunglasses or tinted lenses protect from glare. The purpose is to use remaining vision as well as possible and protect the eyes. The mechanism is adapting the environment so the child gets stronger, clearer visual signals to the brain.
Cardiac rehabilitation and activity planning
Congenital heart disease may limit exercise tolerance. A cardiologist and physiotherapist help plan safe activity levels, rest periods, and monitoring. Parents learn signs of over-exertion such as fast breathing, sweating, or chest discomfort. The purpose is to keep the child active without stressing the heart. The mechanism is graded, supervised activity that improves circulation and muscle strength while staying within the heart’s safe capacity.
Seizure safety education
If the child has seizures, families are taught how to protect the child during a seizure (turn on the side, remove nearby hard objects, time the event), when to use rescue medicines, and when to call emergency services. Bathrooms and beds may be adapted for safety. The purpose is to reduce injury and anxiety during seizures. The mechanism is good preparation and safe environments, not stopping seizures directly but reducing harm.
Genetic counseling for the family
Because CHIME is usually autosomal recessive, parents may want to understand recurrence risk and testing options for future pregnancies or relatives. A genetic counselor explains the PIGL gene, inheritance pattern, and available tests in simple language. The purpose is to support informed family planning and emotional coping. The mechanism is sharing accurate risk information and options so families can make decisions that fit their values.
Psychological support and family counseling
Caring for a child with a rare multisystem disorder is stressful. Psychologists or social workers can provide counseling, support groups, and stress-management tools for parents and siblings. Older children may also benefit from therapy to manage anxiety or low mood. The purpose is to protect mental health and prevent caregiver burnout. The mechanism is emotional processing, problem-solving strategies, and building social support.
Nutritional support and feeding therapy
Feeding difficulties, poor growth, or heart disease may require a dietitian and sometimes a speech therapist for swallowing. They can design energy-dense, easy-to-swallow meals, or recommend tube feeding when needed. The purpose is to maintain good growth, prevent malnutrition, and reduce feeding stress. The mechanism is matching food texture, calories and timing to the child’s medical and developmental needs.
Sun and temperature control
Seizures and skin symptoms can worsen with high temperature or fever in some children. Families are advised to avoid very hot environments, use light clothing, treat fevers promptly, and protect skin from sunburn. The purpose is to reduce triggers for seizures and skin flares. The mechanism is keeping the body temperature more stable and limiting UV damage to vulnerable skin.
Infection-prevention habits
Because cracked skin, heart defects, or medical devices can increase infection risk, simple hygiene is important. This includes regular hand-washing, dental care, skin inspection, good wound care, and up-to-date routine vaccines. The purpose is to lower the chance of serious infections. The mechanism is reducing the number of germs that reach the body and helping the immune system respond more effectively.

Drug Treatments (Symptom-Based, Evidence-Informed)

Important safety note: Only specialists can choose and adjust medicines. Dosages below are general ideas from FDA labels and are not personal medical advice. Never start, stop, or change a drug without a doctor.

Because CHIME is very rare, there are no drugs approved specifically for “CHIME syndrome”. Medicines are used to control separate problems: skin disease, seizures, heart disease, infections, pain, etc. Below are key examples.

Moisturizing and keratolytic creams (topical therapy)
Thick emollients (petrolatum-based ointments, urea or lactic acid creams) are used several times a day on the whole body. They soften scales, reduce itching, and help heal cracks. The dose is “thin layer over all affected skin” as often as the dermatologist advises. The purpose is symptom relief and skin-barrier repair. The mechanism is drawing water into the outer skin and filling spaces between skin cells to reduce water loss. Side effects are usually mild irritation or stinging.
Topical antiseptics or antibiotics
When fissured skin gets infected, short courses of topical antiseptics (like chlorhexidine washes) or antibiotic creams may be prescribed. They are applied to infected or high-risk areas. The purpose is to clear bacteria and prevent deeper infection. Mechanism: direct killing or growth inhibition of bacteria on the skin. Side effects can include local irritation or, rarely, allergy.
Systemic retinoid – acitretin (Soriatane)
In very severe ichthyosiform dermatosis, some specialists may consider oral acitretin, a vitamin A–like drug approved for severe psoriasis. According to FDA labeling, Soriatane is used only for serious keratinization disorders and needs strict monitoring, especially in females of child-bearing potential because it is strongly teratogenic (causes birth defects).FDA Access Data+3FDA Access Data+3FDA Access Data+3 Dose and timing depend on age, weight, liver function and lipids. It works by normalizing how skin cells grow and shed. Side effects include dry lips and eyes, high blood lipids, liver stress, bone changes and serious pregnancy risk, so it is used with great caution and usually only by experienced dermatologists.
Non-sedating antihistamines
Drugs like cetirizine or loratadine (under various brand names) may help if itching is severe. They are taken by mouth, usually once daily, at a dose based on age and weight. Purpose: reduce itch and improve sleep. Mechanism: block histamine H1 receptors, which mediate itch and allergic symptoms. Side effects can include mild drowsiness or dry mouth.
Antiepileptic drug – levetiracetam (Keppra)
Many children with CHIME have seizures. Levetiracetam is an FDA-approved antiseizure medicine used for partial-onset and generalized seizures in children and adults. It is available as tablets, oral solution and injection.FDA Access Data+4FDA Access Data+4FDA Access Data+4 Doctors usually start with a low dose twice daily and adjust according to weight, seizure control, and kidney function. The purpose is to reduce seizure frequency and severity. The exact mechanism is not fully known, but it seems to modulate neurotransmitter release and reduce abnormal neuronal firing. Side effects include sleepiness, irritability, mood changes and, rarely, behavioral problems, so close monitoring is needed.
Other antiseizure medicines (e.g., valproate, carbamazepine, etc.)
Depending on seizure type, doctors may use other antiepileptic drugs, alone or together. The dose, timing (once, twice, or three times per day) and choice depend on seizure pattern, age, liver and kidney function, and interactions with other drugs. Purpose: achieve good seizure control with minimal side effects. Mechanisms vary (enhancing GABA, blocking sodium channels, etc.). Side effects may include weight gain, liver stress, low platelets, or skin rashes, so they require regular blood tests and careful follow-up.
ACE inhibitor – enalapril (EPANED / Vasotec)
For children with certain congenital heart defects or heart failure, ACE inhibitors like enalapril may be used. FDA-approved enalapril oral solution (EPANED) and tablets are indicated for hypertension and heart failure.FDA Access Data+4FDA Access Data+4FDA Access Data+4 Dose is usually once or twice daily, based on weight and blood pressure. Purpose: reduce the workload on the heart and improve blood flow. Mechanism: block ACE, which lowers angiotensin II and aldosterone, leading to blood-vessel relaxation and reduced fluid retention. Side effects include low blood pressure, kidney function changes, high potassium, and rare angio-edema.
Beta-blocker – carvedilol (Coreg / Coreg CR)
Carvedilol is a non-selective beta-blocker with alpha-blocking effects, approved for heart failure and hypertension in adults, and sometimes used in children off-label under specialist care. FDA labeling states carvedilol improves survival and reduces hospitalizations in chronic heart failure.FDA Access Data+4FDA Access Data+4FDA Access Data+4 It is usually given twice daily (immediate-release) or once daily (extended-release), starting at a low dose and slowly increasing. Purpose: help the heart pump more efficiently and control blood pressure. Mechanism: block beta-1, beta-2 and alpha-1 receptors, slowing heart rate and relaxing vessels. Side effects include low blood pressure, dizziness, fatigue, and worsening asthma in susceptible patients.
Diuretics (water tablets)
In some heart defects, fluid can build up in the lungs or legs. Diuretics like furosemide help the body remove extra salt and water through the kidneys. They are taken by mouth or injection, once or more times daily, as directed by the cardiologist. Purpose: reduce swelling and ease breathing. Mechanism: increase urine production by blocking sodium re-absorption in the kidney. Side effects include low potassium, dehydration and kidney stress, so blood tests are needed.
Antibiotics for recurrent infections
Because of skin cracks, ear problems or heart disease, some children get frequent infections. Doctors may prescribe short courses of antibiotics for specific infections, or sometimes long-term low-dose antibiotics in special cases. Purpose: control bacterial infections early and prevent serious complications such as endocarditis in heart disease. Mechanism: kill or block growth of bacteria. Side effects depend on the drug but can include diarrhea, allergy, and, with long use, resistance.
Pain-relief and antipyretic medicines (e.g., paracetamol / acetaminophen)
Simple pain-relief medicines are used to manage procedure-related pain, headaches or fever. Doses are strictly calculated by weight and time between doses. Purpose: comfort, better sleep, and lower fever, which may also help reduce seizure risk in some children. Mechanism: central nervous system actions that reduce pain and temperature. Side effects are usually mild at correct doses but overdose can damage the liver, so dosing must follow medical advice.

Because your word limit is tight, I have focused on the most important drug groups rather than listing 20 in full detail. In real practice, many similar medicines exist in each class, and the exact choices are individualized.

Dietary Molecular Supplements (Supportive, Not Curative)

Always ask the treating doctor before starting any supplement, because some can interact with drugs (for example, with retinoids or anticonvulsants).

Omega-3 fatty acids (fish oil or algae oil)
Omega-3 fats may support heart health, reduce inflammation and improve skin barrier function. They are usually given as capsules or liquids with doses based on age and body weight. Mechanism: incorporation into cell membranes and production of less-inflammatory eicosanoids. They may mildly improve triglyceride levels and skin dryness. Possible side effects include stomach upset and, in large doses, increased bleeding tendency.
Vitamin D
Many children with chronic illness stay indoors and may have low vitamin D levels. Supplementation, guided by blood tests, supports bone health and immune function. It is given as drops or tablets once daily or weekly, depending on the regimen. Mechanism: improves calcium absorption and modulates immune cells. Too much vitamin D can cause high calcium levels, so doses must follow lab results.
Balanced multivitamin without high vitamin A
A standard pediatric multivitamin (with cautious vitamin A content, especially if retinoids are used) can fill small dietary gaps. It is usually taken once daily with food. Mechanism: provides required micronutrients for energy production, growth and tissue repair. Side effects are usually minimal if doses stay within recommended daily allowances.
Zinc
Zinc plays a role in skin repair and immune function. Under medical guidance, zinc supplements may be given if a deficiency is suspected or confirmed. They are taken once or twice daily with food. Mechanism: acts as a co-factor for many enzymes in skin turnover and immune cells. High doses can cause nausea, abdominal pain and interfere with copper absorption.
Vitamin C and other antioxidants
Vitamin C, sometimes with vitamin E and other antioxidants, may support wound healing and protect cells from oxidative stress. Supplements are usually given once or twice daily. Mechanism: neutralizes free radicals and participates in collagen formation. Side effects are usually mild (stomach upset, diarrhea at very high doses).
Probiotics
Probiotic supplements may help gut health, especially if the child needs frequent antibiotics or has feeding issues. They are powders, drops or capsules taken once daily. Mechanism: support a healthy gut microbiome, which may improve digestion and modulate immune responses. Side effects are rare in otherwise immunocompetent children but should be discussed with the doctor.
Protein or amino-acid supplements
If growth is poor and appetite is low, high-protein drinks or powders can be added to meals. Mechanism: provide building blocks for muscle, immune proteins, and skin repair. Side effects can include fullness or digestive discomfort if increased too quickly.
Iron and folate (if deficient)
Anemia can worsen fatigue and reduce exercise tolerance. When blood tests show deficiency, iron and sometimes folate supplements are prescribed at specific doses. Mechanism: support red blood cell production and oxygen transport. Side effects include constipation, dark stools and stomach upset, so timing and formulation may be adjusted.

Because strong evidence for many supplements in CHIME is limited, doctors usually focus on correcting proven deficiencies, not giving large doses “just in case”.

Immunity-Booster, Regenerative and Stem-Cell-Type Treatments

At present, there are no specific “immunity booster pills” or stem-cell drugs approved for CHIME syndrome. Management is mainly supportive.

Routine vaccination and infection control
The most effective “immune support” is keeping routine childhood vaccines up to date, plus flu and other recommended shots, unless the child has special contraindications. Mechanism: train the immune system to recognize and fight infections early. This reduces many serious infections but is not a direct cure for CHIME.
Intravenous immunoglobulin (IVIG) – in special cases only
If a child with CHIME also has a proven antibody deficiency or autoimmune complication, doctors may use IVIG. It is an infusion of pooled antibodies from healthy donors, given in hospital at intervals (for example, every 3–4 weeks). Mechanism: IVIG provides missing antibodies and can modulate abnormal immune responses. Risks include infusion reactions, headache, and rare kidney or clotting problems. It is not routine for all CHIME patients.
Stem-cell or gene-targeted therapies (experimental)
Because CHIME is caused by mutations in PIGL, future research may explore gene-based or cell-based therapies. Right now, these options are experimental and not standard treatment. Families interested in research trials should discuss this with their geneticist and only join ethically approved studies.

Surgical Treatments

Not every child will need surgery, but these are the main areas where it may be used.

Cardiac surgery for congenital heart defects
Some heart defects can be repaired or improved with surgery or catheter-based procedures. The surgeon may close holes, open narrowed valves, or correct abnormal connections. The purpose is to improve blood flow and reduce strain on the heart. This can improve growth, exercise tolerance and long-term survival.
Procedures for ear anomalies and hearing
ENT surgeons may place ventilation tubes in the eardrums to treat recurrent middle-ear fluid, or later perform reconstructive surgery to improve ear shape or ear canal function. The purpose is better hearing and reduced ear infections, which supports speech development and quality of life.
Eye procedures for complications of coloboma
Eye surgery cannot “remove” a coloboma, but procedures may be needed to treat complications such as retinal detachment or to protect a very fragile eye. Sometimes cosmetic surgeries or contact lenses are used to improve appearance and reduce light sensitivity. The purpose is to preserve any remaining vision and protect the eye.
Dental and jaw surgery
If the child has severe dental crowding, abnormal bite, or jaw anomalies, dentists and maxillofacial surgeons may plan corrective procedures in adolescence. The purpose is better chewing, speech, oral hygiene and appearance.
Feeding tube placement (gastrostomy)
If oral feeding is unsafe or does not provide enough calories, surgeons can place a feeding tube directly into the stomach (gastrostomy). Parents then give liquid formula through the tube. The purpose is to secure reliable nutrition and reduce stress around feeding.

Prevention and Risk Reduction

CHIME syndrome itself cannot usually be prevented once the genes are present, but several steps can reduce risks and complications:

Genetic counseling and carrier testing for parents and at-risk relatives.
Prenatal or preimplantation genetic diagnosis in future pregnancies if the family chooses this path.
Avoiding close-relative marriage where possible in families with known recessive conditions.
Early diagnosis and regular follow-up with a multidisciplinary team to catch problems early.
Strict skin-care and infection-prevention routines to reduce serious skin and bloodstream infections.
Timely repair of heart defects when recommended, to prevent heart failure and lung damage.
Good seizure control and fever management to reduce injury from seizures.
Hearing and vision support started early to maximize development.
Healthy nutrition and growth monitoring to prevent malnutrition.
Family mental-health support to prevent burnout and improve long-term care.

When to See a Doctor Urgently

Parents and caregivers should seek urgent medical care if a child with CHIME has:

Trouble breathing, blue lips, or sudden fast breathing.
New or worsening seizures, especially seizures lasting more than 5 minutes.
Very high fever or fever with unusual sleepiness or confusion.
Sudden chest pain, fainting, or extreme tiredness.
Red, hot, swollen skin cracks with pus or spreading redness.
Poor feeding, vomiting, or little urine for many hours.
Sudden loss of vision or severe eye pain.

Regular (non-urgent) check-ups with pediatrician, cardiologist, dermatologist, neurologist, ENT doctor and geneticist are also important to adjust treatment over time.

What to Eat and What to Avoid

Food plans must be tailored, especially if there is heart disease, poor growth or feeding problems. In general:

Helpful to eat

Energy-dense, nutrient-rich meals – small frequent meals with whole grains, vegetables, fruits and healthy fats help growth.
High-quality protein – eggs, fish, lean meat, lentils and dairy support muscle, immune system and skin repair.
Healthy fats – olive oil, nuts (if safe), seeds and oily fish provide essential fatty acids for skin and brain.
Plenty of fluids – water and appropriate oral rehydration drinks help skin and circulation; exact fluid limits may be adjusted in heart disease.
Foods rich in vitamins and minerals – colorful fruits and vegetables, fortified cereals and dairy help cover micronutrient needs.
Soft, easy-to-chew textures if chewing or swallowing is difficult.
Salt-controlled diet when the cardiologist recommends it, to reduce fluid overload.
Iron-rich foods (meat, beans, leafy greens) if anemia is an issue.
Calcium-rich foods (milk, yogurt, cheese, some green vegetables) for bones.
Balanced, culturally familiar meals to support enjoyment and family routines.

Better to avoid or limit

Very salty processed foods (chips, instant noodles, fast food) in children with heart disease or fluid problems.
Sugary drinks and sweets that give calories but few nutrients and worsen dental problems.
Excess vitamin A–rich supplements especially if the child is on retinoid drugs like acitretin.
Very spicy or acidic foods if they trigger reflux or feeding refusal.
Foods that are choking hazards (whole nuts, hard candy) in children with poor chewing or seizures.

A pediatric dietitian can create a detailed plan for each child.

Frequently Asked Questions (FAQs)

Is CHIME syndrome curable?
No. CHIME syndrome is a lifelong genetic condition. However, many symptoms can be managed with careful medical, surgical and supportive care, and quality of life can improve with early, coordinated treatment.
What causes CHIME syndrome?
It is usually caused by harmful changes in the PIGL gene, which is important for making GPI anchors that attach important proteins to cell surfaces. When PIGL does not work, development of skin, brain, eyes, heart and ears is affected.PMC+2University of Chicago Genetic Services+2
Is CHIME syndrome inherited?
Yes. It is typically autosomal recessive. This means both parents carry one changed copy of the gene but are usually healthy. When two carriers have a child, there is a 25% chance in each pregnancy for the child to have the condition.University of Chicago Genetic Services+1
How common is CHIME syndrome?
It is extremely rare, with fewer than a few dozen cases reported worldwide in the medical literature. Because it is so rare, many doctors may never see a case.MalaCards+2DermaCompass+2
Can early diagnosis help?
Yes. Early diagnosis allows prompt management of heart defects, seizures, hearing and vision problems, and skin care. This can prevent some complications and support better development.
Will my child be able to go to school?
Most children with CHIME have intellectual disability, but many can attend school with special education support, adapted materials and therapies. The level of independence varies widely between individuals.
Can CHIME syndrome affect life expectancy?
Life expectancy is not well known because reported cases are so few. Severe heart defects, uncontrolled seizures, or infections can be serious. Good medical follow-up can reduce some risks.
Is there a specific diet for CHIME syndrome?
There is no special “CHIME diet”, but many children need high-calorie, nutrient-dense food plans, especially if they have feeding problems or heart disease. A dietitian can adjust salt, fluids and nutrients to the child’s needs.
Are there research studies or registries?
Because CHIME is ultra-rare, some centers and researchers collect data on patients and study the PIGL gene. Families can ask their geneticist about research opportunities and registries that may be available locally or internationally.PubMed+2Cell+2
Can gene therapy fix CHIME syndrome now?
Currently, there is no approved gene therapy for CHIME. Gene and cell-based treatments are still in early research. It may take many years before any become available outside research studies.
How often should my child see specialists?
This depends on the severity of problems. In early childhood, visits may be frequent: several times per year for cardiology, dermatology, neurology, ENT, ophthalmology and therapy services. As the child grows, schedules may change based on stability.
Can siblings also have CHIME syndrome?
Yes, because of the recessive inheritance, siblings can be affected, carriers or unaffected. Genetic counseling and, sometimes, testing of siblings can clarify their status.
Can adults have undiagnosed CHIME syndrome?
In theory yes, especially in places with limited access to genetics. Adults with a matching combination of eye, heart, skin, intellectual and ear problems could have CHIME or another similar syndrome. Genetic testing can help clarify.
How can families cope emotionally?
Living with a rare disorder is stressful and often lonely. Psychological counseling, parent support groups, online communities for rare diseases, and respite care can help parents and siblings cope and reduce burnout.
Where can I find more information?
High-quality information can be found on rare-disease sites such as GARD, Orphanet, and university genetics centers. These sites give up-to-date summaries, research links and contact details for support organizations.Monarch Initiative+4GARD Information Center+4Orpha+4

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.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December 31, 2025.

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