Cat eye syndrome (often shortened to CES) is a chromosome problem. Cat eye syndrome is a rare genetic condition that affects many parts of the body, especially the eyes, ears, anus, heart, and kidneys. It usually starts before birth and is present from the time the baby is born. National Organization for Rare Disorders+2MalaCards+2 People normally have 46 chromosomes in each cell, including two copies of chromosome 22. In cat eye syndrome, there is an extra small piece of chromosome 22, called a small supernumerary marker chromosome. Because of this, the person has extra copies of some genes on the short arm and nearby part of the long arm of chromosome 22 (22p and 22q11 region). MalaCards+2BioMed Central+2
The name “cat eye” comes from a typical eye change called an iris coloboma. In this change, the colored part of the eye (iris) has a gap or notch. This can make the pupil look long or oval, similar to the vertical pupil of a cat. However, not every person with cat eye syndrome has this eye feature. National Organization for Rare Disorders+2Rare Chromo+2
Doctors often describe a classic “triad” of signs in cat eye syndrome:
Iris coloboma (eye defect).
Anal atresia (the anal opening is missing or blocked).
Preauricular pits or skin tags in front of the ears. National Organization for Rare Disorders+2NCBI+2
Many people with CES also have heart problems, kidney problems, unusual facial features, and sometimes learning difficulties. The severity is very variable. Some people have only mild signs and can live almost normal lives, while others have serious medical issues from birth. Orpha+2EMBL-EBI+2
Other Names for Cat Eye Syndrome
Cat eye syndrome is known by several other names in medical books:
Schmid–Fraccaro syndrome – named after doctors who first described it.
Inversion duplication 22q11 syndrome – describing the exact chromosome change.
22q11 partial tetrasomy / inv dup(22)(q11) – technical names for the extra chromosome piece.
Chromosome 22 small supernumerary marker chromosome syndrome (chromosome 22 sSMC) – focusing on the extra tiny chromosome. Wikipedia+2Frontiers+2
These names all point to the same basic problem: extra genetic material from chromosome 22, especially around 22q11.
Types of Cat Eye Syndrome
Doctors usually describe types of CES based on how the extra chromosome looks and how many cells in the body carry it, rather than “mild / moderate / severe” alone. Nature+2PMC+2
1. Typical Cat Eye Syndrome (with classic marker chromosome)
In this common type, there is a small extra chromosome that contains two extra copies of part of chromosome 22, usually the short arm and a piece of 22q11. This creates partial tetrasomy (four copies) of that region. The marker chromosome often has two centromeres and small “satellites” at the ends. Many of the classic features, like iris coloboma and anal atresia, are seen in this group.
2. Atypical Cat Eye Syndrome (unusual or small duplications)
Some people have a smaller or differently shaped duplication of the 22q11 region, or the gain may be inside a regular-sized chromosome 22 instead of a separate tiny marker. These “atypical” forms may cause only some of the classic features or milder signs. The diagnosis often requires more sensitive lab tests such as chromosomal microarray. Nature+1
3. Mosaic Cat Eye Syndrome
In mosaic CES, some cells in the body have the extra chromosome 22 and some do not. Mosaicism can lead to very variable symptoms. A person may have mild external signs but still have internal organ problems, or they may be almost without symptoms and discovered only by chance during genetic testing. BioMed Central+1
4. Familial vs. Sporadic Cat Eye Syndrome
Sporadic cases: Most people with CES are the first in their family to have the condition. The chromosome change happens randomly when the egg or sperm is formed (a de novo error). MalaCards+1
Familial cases: Sometimes, a parent may carry a balanced or mild rearrangement of chromosome 22 without major symptoms, and this can be passed on to the child in an unbalanced way, causing CES. In these cases, more than one family member may be affected. PMC+1
Causes
In reality, there is one main cause of cat eye syndrome: extra genetic material from chromosome 22 around region 22q11. However, doctors describe many related mechanisms and risk patterns. Below are 20 labeled “causes” or contributing factors, all linked to this main chromosomal problem.
Core Genetic Causes
Small supernumerary marker chromosome 22
Most patients have a tiny extra chromosome, smaller than chromosome 21, made from parts of chromosome 22. This piece carries extra genes, which disturb normal development of the eyes, anus, ears, heart, and kidneys. PMC+1Partial tetrasomy 22q11
In many cases, the marker chromosome carries two extra copies of 22q11, so the person has four copies of genes in this region instead of two. This “overdose” of genes changes how tissues form in the embryo, leading to multiple birth defects. BioMed Central+1Partial trisomy 22 (extra single copy)
In some patients, the extra chromosome carries only one additional copy of the 22q region (trisomy instead of tetrasomy). This still causes CES features but sometimes with milder or different patterns of anomalies. BioMed Central+1Gain of the CES critical region on 22q11.21
Research has identified a specific segment, about a few megabases long, called the CES critical region. Extra copies of genes in this segment are strongly linked to iris coloboma, anorectal malformations, and urogenital defects. Nature+1Low-copy repeats (LCR22) causing rearrangements
The 22q11 area has many repeated sequences called low-copy repeats. These make the chromosome unstable during cell division, so pieces can be duplicated or flipped. These structural errors are a direct cause of CES. BioMed Central+1
How and When the Error Happens
Error during meiosis in the egg or sperm
Usually, the extra marker chromosome forms when germ cells (egg or sperm) are made. Chromosomes do not separate properly, or they recombine wrongly, producing a gamete with an extra 22q11 region. When this gamete joins with a normal one at fertilization, the embryo has CES. Science+1Post-zygotic error leading to mosaicism
Sometimes, the early embryo starts with normal chromosomes, and then an error happens in one of the first cell divisions. Only some cells gain the marker chromosome. This leads to mosaic CES with a mixture of normal and abnormal cells in different organs. BioMed Central+1Parental balanced rearrangement involving chromosome 22
A parent may carry a balanced inversion or duplication of 22q11 that does not cause major problems in them because no genetic material is missing or added overall. But when passed to a child, the rearrangement can become unbalanced, creating an extra 22q11 piece and causing CES. PMC+1Complex small supernumerary marker chromosome (complex sSMC)
Some marker chromosomes have a complicated structure with inverted and duplicated segments. These complex shapes can include the CES critical region plus other parts, which may change the severity and exact features of the syndrome. LIDSEN Publishing+1Intrachromosomal triplication or triplication blocks
Instead of a separate marker, some people have extra copies of 22q11 within the main chromosome 22 itself, such as a triplication block. This can still give the same gene dosage problem and lead to a cat eye syndrome phenotype. Nature+1
Risk Patterns and Modifiers (Still Genetic)
De novo (new) mutation with no family history
Most CES cases are de novo, meaning the parents have normal chromosomes and the error appears for the first time in the child. This is still a genetic cause but not inherited from the parents’ DNA pattern. MalaCards+1Familial transmission of a marker chromosome
In some families, the extra marker chromosome is passed from one generation to another. In these families, several relatives may have CES or mild signs related to the same genetic change. PMC+1Gene dosage effect on developmental pathways
Extra copies of genes in the CES region may disturb key developmental pathways that control how the eye closes, how the anus forms, and how the heart and kidneys develop. This “gene dosage effect” is a core mechanism behind the malformations. Nature+1Modifier genes elsewhere in the genome
Not everyone with the same duplication has the same symptoms. Other genes in the person’s genome may act as “modifiers,” increasing or decreasing the severity of CES features. This helps explain why some family members are mildly affected and others more severely. BioMed Central+1Epigenetic changes in duplicated regions
Extra copies of genes can also affect how genes are switched on or off (epigenetics). Changes in methylation or chromatin structure in the duplicated 22q11 region may further modify how strongly the genes act during embryo development. Nature+1
Points About What Does Not Cause CES (but Often Asked)
Not caused by routine infections in pregnancy
There is no strong evidence that regular infections such as common colds or mild fevers in pregnancy cause CES. The key problem is structural change in chromosome 22, not a typical environmental exposure. National Organization for Rare Disorders+1Not caused by usual medicines taken before conception
Standard medicines taken under medical advice before pregnancy have not been shown to cause CES. Again, the main mechanism is a chromosome rearrangement, usually occurring by chance. National Organization for Rare Disorders+1Not caused by lifestyle choices alone
Smoking, alcohol, or diet can harm pregnancy in many ways, but they are not known as direct causes of the specific 22q11 duplication that leads to CES. Parents should not blame themselves for this rare genetic error. National Organization for Rare Disorders+1Possible weak link with advanced parental age (uncertain)
For some chromosome problems, higher maternal age raises risk. For CES, evidence is limited and not clear. Some studies suggest that errors during egg formation may be more likely with age, but there is no strong, proven link yet for CES. BioMed Central+1Combination of chance and chromosome structure
Overall, CES is best seen as the result of chance errors during chromosome division, helped by the naturally unstable structure of the 22q11 region. There is usually no clear preventable “trigger” that parents can control. BioMed Central+2LIDSEN Publishing+2
Symptoms and Clinical Features
People with cat eye syndrome can look very different. Some have many problems; others have only a few. Below are 15 important symptoms or feature groups, described in simple language. EMBL-EBI+3MalaCards+3Rare Chromo+3
Iris coloboma (“cat eye” appearance)
The colored part of the eye (iris) may have a gap or notch, usually at the bottom. This can make the pupil look long, oval, or keyhole-shaped. Sometimes vision is normal if only the iris is involved; if deeper parts (retina or choroid) are affected, vision can be reduced.Anal atresia or other anorectal malformations
The anal opening may be missing, closed, or in the wrong place. Babies cannot pass stool normally, and the belly may become swollen soon after birth. This usually needs surgery in the newborn period to make or correct the anal opening.Preauricular pits, tags, or ear malformations
Small holes (pits) or extra bits of skin (tags) can appear in front of the ears. The outer ear may be low-set, large, or shaped differently. These changes are minor by themselves but are part of the CES pattern and help doctors recognize the syndrome.Down-slanting eye openings (palpebral fissures)
The openings between the eyelids may slant downward toward the ears. This gives the eyes a typical look that doctors notice during examination, especially when combined with other facial features.Facial features (hypertelorism, epicanthal folds, small jaw)
Many people with CES have eyes that are spaced wider apart than usual (hypertelorism), skin folds near the inner corners of the eyes (epicanthal folds), or a small lower jaw (micrognathia). These features vary from mild to obvious but are usually not harmful by themselves.Hearing problems
Ear canal malformations or middle ear fluid can cause hearing loss. Some patients develop repeated ear infections. Hearing issues can affect speech and learning, so early hearing tests and support are very important.Congenital heart defects
Heart defects are common, such as holes between chambers (atrial or ventricular septal defects), abnormal connections of large vessels, or other complex heart problems. These can cause poor feeding, fast breathing, blue skin color, or poor weight gain. Some need surgery in infancy. National Organization for Rare Disorders+2MalaCards+2Kidney and urinary tract anomalies
The kidneys may be missing, small, duplicated, or in an unusual position. The tubes that carry urine (ureters) may be abnormal, causing reflux or blockage. These problems can lead to high blood pressure or kidney damage if not detected early.Genital malformations
In boys, problems can include undescended testes or hypospadias (the urethra opens on the underside of the penis). In girls, the uterus or vagina may be formed differently. These issues may affect fertility and may need urology or gynecology care.Gastrointestinal problems beyond the anus
Some people have problems higher in the digestive tract, such as malrotation (bowel in the wrong position), esophageal or duodenal atresia (blockages), or reflux. These can cause vomiting, feeding problems, or poor growth.Skeletal abnormalities
The spine, ribs, hands, or feet can be different. Examples include scoliosis (curved spine), extra ribs, short limbs, or fused bones. Most are mild but some may affect posture and movement.Eye movement and vision problems (strabismus, refractive errors)
Besides coloboma, some people have misaligned eyes (strabismus, “crossed eyes”) or need glasses for nearsightedness or farsightedness. Regular eye exams are important to protect vision in the good eye if one eye is more affected.Growth delay
Some children with CES grow more slowly than their peers. They may be shorter or weigh less. Growth problems may be due to heart disease, feeding issues, or intrinsic genetic effects. Nutrition support and monitoring are often needed.Developmental delay or learning difficulties
Many people with CES have normal or near-normal intelligence, but some have mild to moderate learning difficulties. They may sit, walk, or talk later than other children. Early intervention, speech therapy, and special education can help. National Organization for Rare Disorders+2Rare Chromo+2Other organ involvement (lungs, brain, etc.)
A small number of patients have brain malformations, seizures, or lung problems. These can add to disability and may require neurologists or other specialists for ongoing treatment.
Diagnostic Tests
Diagnosis of cat eye syndrome usually combines clinical examination and genetic testing, with other tests used to check heart, kidney, and other organs. BioMed Central+2ScienceDirect+2
Below are 20 key tests, grouped into:
Physical Exam
Manual / Clinical Functional Tests
Lab and Pathological Tests
Electrodiagnostic Tests
Imaging Tests
Each test is explained in simple language.
Physical Exam
Full newborn and child physical examination
A pediatrician examines the whole body of the baby or child. They look at the face, eyes, ears, hands, feet, chest, abdomen, and genital area. They check for iris coloboma, ear tags, anal opening, heart murmur, and other birth defects. A careful exam often gives the first clue that CES may be present.
Detailed eye examination with light
The doctor uses a bright light to look at the front of the eye. They check the iris and pupil shape to see if there is a coloboma or other abnormality. Even without special equipment, a clear “keyhole” or “cat eye” pupil can sometimes be seen at the bedside.
Examination of the anal region and genitalia
The doctor inspects the anal area to see if the opening is present, in the correct position, and of normal size. They also check for fistulas (small abnormal openings) and examine the genital organs for any malformations. This is crucial in the first days of life because anal atresia requires prompt treatment.
Cardiovascular and abdominal examination
Using a stethoscope, the doctor listens to the heart for murmurs that may suggest a structural heart defect. They also feel the abdomen to detect enlarged organs or masses. Abnormal findings guide further tests such as echocardiograms or ultrasounds.
Manual / Clinical Functional Tests
Slit-lamp and fundus examination (clinical eye test)
An eye doctor (ophthalmologist) uses a device called a slit-lamp to look closely at the front of the eye (cornea, iris, lens). Then they examine the back of the eye (retina, optic nerve) using special lenses or an ophthalmoscope. This helps confirm an iris coloboma and see if the defect extends deeper, which can affect vision.
Visual acuity and basic visual function tests
When the child is old enough, the doctor tests how clearly they see letters, shapes, or pictures. In infants, they may use simple methods, like seeing whether the baby follows a light or toy. These tests show if the coloboma or other eye problems affect vision and if glasses or other support are needed.
Developmental and neurologic assessment
Doctors and therapists observe how the child moves, speaks, and interacts. They test muscle tone, reflexes, and coordination. Standard developmental scales can measure whether the child is meeting milestones. This helps detect developmental delay, learning problems, or signs of brain involvement.
Basic bedside hearing tests and clinical audiology screening
Simple clinical tests, such as watching the child’s response to sounds or using tuning forks in older children, may be used first. These can suggest if there is hearing loss. If there are concerns, more advanced tests follow (see Electrodiagnostic tests).
Lab and Pathological Tests
Conventional karyotype (chromosome analysis)
A karyotype is a test where chromosomes from blood cells are stained and viewed under a microscope. In CES, the lab often sees a small extra chromosome (the marker chromosome 22). This test can confirm that an extra chromosome is present, although very small changes may be hard to see. MalaCards+2ScienceDirect+2
Chromosomal microarray (CMA)
Chromosomal microarray looks for extra or missing pieces of DNA across the whole genome. It can detect the exact size and location of the duplication on chromosome 22. In cases with subtle or atypical CES, CMA is very helpful because it is more sensitive than a standard karyotype. BioMed Central+2Nature+2
FISH (fluorescence in situ hybridization) for 22q11 region
FISH uses glowing probes that attach to specific DNA regions. Probes for the 22q11 region can show if extra copies are present or if there is a marker chromosome carrying that sequence. FISH is useful for confirming the origin of a small supernumerary chromosome and for testing family members. ScienceDirect+1
Blood and urine tests for organ function
Routine lab tests such as kidney function (creatinine, urea), liver enzymes, and urinalysis help check whether the heart or kidney malformations are affecting the body. Abnormal results may lead to closer monitoring or treatment, even though they do not diagnose CES directly.
Electrodiagnostic Tests
Electrocardiogram (ECG)
An ECG records the electrical activity of the heart using wires and patches placed on the chest. Children with CES and heart defects may also have rhythm problems. The ECG helps doctors detect arrhythmias or conduction disturbances and plan treatment.
Auditory brainstem response (ABR) or other electrophysiologic hearing tests
ABR uses small electrodes on the head and sounds played through earphones. The machine records how the hearing nerve and brainstem respond. This test is especially useful in babies and young children who cannot cooperate with normal hearing tests. It helps detect the degree and type of hearing loss linked to ear malformations. Rare Chromo+1
Visual evoked potentials (VEP)
In VEP testing, electrodes on the scalp record brain responses to visual stimuli, such as flashing lights or patterns. This test checks how well signals travel from the eyes to the brain. It can help understand the impact of coloboma and other eye anomalies on visual pathways.
Electroencephalogram (EEG) in patients with seizures
If a child with CES has seizures or unusual spells, doctors may perform an EEG. This checks the electrical activity of the brain and can detect abnormal patterns that suggest epilepsy or other brain dysfunction.
Imaging Tests
Echocardiogram (heart ultrasound)
An echocardiogram uses sound waves to make moving images of the heart. It shows the size of the chambers, the function of the heart muscle, and how blood flows through the valves and vessels. It is essential for detecting congenital heart defects in cat eye syndrome. National Organization for Rare Disorders+1
Renal and urinary tract ultrasound
This ultrasound looks at the kidneys, ureters, and bladder. It can reveal missing kidneys, duplicated kidneys, cysts, or abnormal positions. Regular scanning can help monitor for scarring or obstruction, which might lead to chronic kidney disease if not treated.
Abdominal and pelvic ultrasound or contrast studies
Imaging of the abdomen and pelvis helps evaluate anorectal malformations, fistulas, and other digestive tract issues. Sometimes contrast is given through the rectum or stomach to outline the bowel on X-ray, helping surgeons plan operations.
Brain MRI (and sometimes CT) in selected patients
If there are seizures, significant developmental delay, or abnormal head size, doctors may arrange MRI (or CT if MRI is not available) to look for brain malformations. This can show structural causes of neurologic problems and guide therapy and prognosis.
Non-pharmacological treatments
Each of these is supportive care, not a cure for the chromosome change.
1. Multidisciplinary care coordination
Purpose: To bring many specialists together (pediatrics, cardiology, ophthalmology, nephrology, surgery, genetics, rehabilitation) so the child gets a complete and safe care plan. NCBI+1
Mechanism: A lead clinician or clinic reviews all test results and visits, then combines them into one clear plan. This reduces duplicated tests, conflicting advice, and missed problems. Regular team meetings and shared records help detect heart, kidney, eye, and bowel issues early and plan surgeries and therapies at the right time.
2. Early developmental intervention
Purpose: To support motor skills, speech, learning, and behavior from infancy, when the brain is most flexible. WebMD+1
Mechanism: Therapists assess the child’s strengths and delays and design play-based activities to build posture, hand use, understanding, and communication. Parents are trained to repeat simple exercises at home every day. Early stimulation helps “shape” brain pathways and may reduce later learning problems and dependence.
3. Physical therapy
Purpose: To improve posture, balance, walking, and physical endurance when there is low muscle tone, joint problems, scoliosis, or after surgery. All About Vision+1
Mechanism: The physiotherapist uses stretching, strengthening, and balance exercises. They may teach safe lifting and positioning, recommend walkers or orthoses, and design exercise programs that avoid strain on the heart or kidneys. Regular movement protects joints, supports heart health, and helps children join school and play activities.
4. Occupational therapy
Purpose: To help the child manage daily tasks such as dressing, feeding, writing, and school work, and to adapt the environment when there are physical or sensory limits.
Mechanism: The therapist breaks each daily task into small steps and teaches easier ways to do them. They may suggest special cutlery, adapted seating, pencil grips, or switches. They also work on fine-motor skills and sensory integration, helping the child cope with noises, lights, or touch.
5. Speech and language therapy
Purpose: To improve understanding, speech clarity, and communication when there are structural mouth problems, hearing loss, or developmental delay. All About Vision+1
Mechanism: The therapist trains mouth and tongue movements, teaches simple words and sentences, and may introduce sign language or picture communication if speech is slow. With hearing aids and ear care, speech therapy can greatly improve social interaction and school performance.
6. Vision rehabilitation and low-vision support
Purpose: To help people cope with iris coloboma, reduced vision, light sensitivity, or eye misalignment. All About Vision+1
Mechanism: Eye specialists may prescribe tinted or prosthetic contact lenses to protect the retina and mask the “cat-eye” appearance, magnifiers for reading, and lighting adjustments at home and school. Orthoptic exercises may help eye alignment. Training teaches the child to scan environments carefully and use large-print materials.
7. Hearing rehabilitation and audiology follow-up
Purpose: To detect and treat hearing loss early, which is important for speech and learning. NCBI+1
Mechanism: Regular hearing tests measure sound detection and speech understanding. If needed, hearing aids or bone-anchored devices are fitted. Families learn how to maintain devices and reduce background noise. Teachers are advised to use seating in front rows and sometimes FM systems in the classroom.
8. Bowel and continence programs
Purpose: To manage constipation, incontinence, or anal atresia complications after surgery, and to improve comfort and social participation. NCBI+1
Mechanism: Specialist nurses and surgeons plan timed toilet sitting, high-fiber diet, fluid goals, and stool-softening regimens (with or without medicines). They may use enemas or bowel washouts in some children. Education reduces fear and shame, and helps families understand that these difficulties are common in CES and can be managed.
9. Cardiac-safe exercise counseling
Purpose: To keep children active without overloading a heart defect or post-surgical heart repair. EyeMantra+1
Mechanism: Cardiologists and physiotherapists review echocardiogram results and suggest safe intensity levels. They recommend walking, swimming, or play that avoids extreme strain. A graded plan gradually builds stamina, reduces breathlessness, and supports healthy weight, while warning signs (chest pain, dizziness) are taught to family and school.
10. Nutrition and feeding therapy
Purpose: To support growth when there are feeding difficulties, reflux, or increased energy needs due to heart disease or frequent illness. National Organization for Rare Disorders+1
Mechanism: Dietitians estimate calorie and protein needs and design simple meal plans. Feeding therapists work on sucking, chewing, and swallowing skills, and on safe positions during feeds. If oral intake is not enough, they may discuss tube feeding. The goal is steady growth while protecting lungs from aspiration.
11. Orthopedic and spinal management
Purpose: To treat scoliosis, limb deformities, or hip problems and to protect mobility and comfort. Orpha+1
Mechanism: Orthopedic teams monitor spine and joints with X-rays. Braces, special seating, and physiotherapy slow curve progression. In some cases surgery is needed, followed by intensive rehabilitation. Good posture also reduces respiratory burden in children with heart or lung issues.
12. Psychological support and family counseling
Purpose: To support mental health, coping, and family resilience in a chronic, unpredictable condition. Cureus+1
Mechanism: Psychologists help parents manage stress, grief, and guilt, and help children handle bullying or body-image concerns. Therapy can teach coping skills, problem-solving, and realistic goal setting. Support groups connect families who share CES or similar chromosomal disorders, reducing isolation.
13. Special education and learning support
Purpose: To maximize learning, even when there are mild cognitive difficulties or attention problems. WebMD+1
Mechanism: Educational psychologists assess strengths and weaknesses. Schools can provide Individualized Education Programs (IEPs), extra time for tests, one-on-one support, and assistive technology. Adjusted expectations and targeted teaching help many children reach near-normal academic levels.
14. Genetic counseling
Purpose: To explain the genetic cause of CES, recurrence risk, and options for future pregnancies. Orpha+2Rare Chromo+2
Mechanism: Genetic counselors review family history and chromosome results. They explain how the small supernumerary marker chromosome arose and what it means for parents, siblings, and future children. They may discuss prenatal testing or preimplantation genetic testing for families planning another pregnancy.
15. Social work and disability support
Purpose: To help families access financial aid, disability benefits, transport help, and school accommodations.
Mechanism: Social workers know local laws and programs. They help complete forms, gather medical reports, and communicate with schools and employers. This reduces financial stress and makes it easier for caregivers to attend appointments and stay involved in their child’s care.
16. Eye protection and sun management
Purpose: To reduce discomfort and damage from light sensitivity in iris coloboma. All About Vision+1
Mechanism: Sunglasses, tinted lenses, hats with brims, and window films reduce glare. Indoor lighting is adjusted, and screen brightness lowered. These simple steps can greatly improve comfort and reading tolerance.
17. Respiratory physiotherapy (where needed)
Purpose: To support breathing when lung function is affected by heart disease, scoliosis, or surgery.
Mechanism: Therapists teach deep-breathing, coughing techniques, and sometimes use incentive spirometers. Positioning strategies help keep lungs expanded after surgery. These methods reduce chest infections and speed recovery.
18. Sleep hygiene and positional care
Purpose: To improve sleep quality, which affects growth, behavior, and learning.
Mechanism: Families are guided to set regular bedtimes, quiet routines, and comfortable sleep positions that reduce reflux or breathing effort. Good sleep supports hormone balance, immunity, and mood.
19. Transition planning to adult care
Purpose: To ensure safe move from pediatric to adult services during teenage years. NCBI+1
Mechanism: The team gradually teaches the young person about their condition, medications, and warning signs. They identify adult cardiologists, nephrologists, and other specialists, and share records so care continues smoothly.
20. Community and online support groups
Purpose: To provide practical tips and emotional support from other families with CES or similar syndromes. Orpha+1
Mechanism: Patient organizations and online forums share experiences about surgeries, school, and daily care. Hearing others’ stories can reduce fear and help families advocate for appropriate care.
Drug treatments
There are no medicines approved specifically “for Cat Eye Syndrome”. Medicines are used to treat associated problems, such as heart defects, seizures, growth failure, or constipation. The drugs below are examples based on standard indications in their FDA labels; dosing must always be personalized by a physician. FDA Access Data+4NCBI+4All About Vision+4
1. Levetiracetam (e.g., KEPPRA) – seizures
Class: Antiepileptic drug.
Purpose & mechanism: Used for partial-onset and generalized seizures by modulating synaptic neurotransmitter release, which stabilizes abnormal electrical activity. FDA Access Data+1
Dosage/time (general): FDA labels suggest weight-based dosing in children, given twice daily, with slow titration. The exact dose depends on age, weight, and kidney function. FDA Access Data+1
Side effects: Sleepiness, irritability, dizziness, behavior change, and rarely mood or psychiatric symptoms.
Note: In CES, it is used when seizures or epilepsy are present, not for the syndrome itself.
2. Somatropin (e.g., Norditropin, Genotropin, Saizen, Humatrope) – growth failure
Class: Recombinant human growth hormone.
Purpose & mechanism: For children with growth hormone deficiency or certain growth-failure states; it stimulates bone and tissue growth via IGF-1. FDA Access Data+5All About Vision+5FDA Access Data+5
Dosage/time (general): Weekly total doses around 0.18–0.48 mg/kg/week, divided into once-daily or several subcutaneous injections, adjusted to growth response and IGF-1 levels. FDA Access Data+2FDA Access Data+2
Side effects: Headache, joint pain, fluid retention, rare increased intracranial pressure, changes in glucose metabolism.
Note: Used only if the child meets criteria; not all CES patients need or benefit from it.
3. Enalapril (e.g., Vasotec, Epand oral solution) – heart failure or hypertension
Class: ACE inhibitor.
Purpose & mechanism: Improves heart function by blocking angiotensin-converting enzyme, lowering angiotensin II and aldosterone, which reduces blood pressure and workload on the heart. FDA Access Data+4EyeMantra+4FDA Access Data+4
Dosage/time (general): Oral once or twice daily; pediatric dosing is weight-based and guided by blood pressure and kidney function.
Side effects: Low blood pressure, cough, high potassium, kidney function changes, rare angioedema.
Note: It may be used in CES patients with certain congenital heart defects or heart failure, not for the chromosome problem itself.
4. Furosemide – fluid overload in heart or kidney disease
Class: Loop diuretic.
Purpose & mechanism: Increases salt and water excretion in the kidney’s loop of Henle, reducing fluid overload, swelling, and lung congestion. FDA Access Data+3FDA Access Data+3FDA Access Data+3
Dosage/time (general): Given orally or intravenously; pediatric doses are weight-based and adjusted to urine output and blood chemistry.
Side effects: Dehydration, low potassium and other electrolytes, low blood pressure, kidney function changes, and, rarely, hearing problems.
Note: Frequently used after cardiac surgery or in chronic heart failure.
5. Proton pump inhibitors (e.g., Omeprazole) – reflux
Class: Gastric acid-suppressing drugs.
Purpose & mechanism: Decrease stomach acid by blocking the proton pump in stomach cells, helping reflux and esophagitis.
Dosage/time (general): Usually once daily before a meal, sometimes twice daily. Children receive weight-based doses.
Side effects: Headache, abdominal pain, diarrhea or constipation, and, with long-term use, possible nutrient malabsorption or infection risk.
Note: Helpful when feeding problems and reflux worsen growth or cause lung aspiration.
6. Polyethylene glycol 3350 – constipation
Class: Osmotic laxative.
Purpose & mechanism: Draws water into the bowel, softening stool and making it easier to pass; important after anal atresia repair or in chronic constipation.
Dosage/time (general): Powder mixed with liquid, given once daily and adjusted slowly to maintain soft stools.
Side effects: Bloating, gas, diarrhea if dose is too high.
Note: Often part of a broader bowel program with diet and behavior changes.
7. Antibiotics (e.g., amoxicillin) – infections and prophylaxis
Class: Beta-lactam antibiotic.
Purpose & mechanism: Treats bacterial infections such as ear, urinary, or respiratory infections by inhibiting bacterial cell-wall synthesis.
Dosage/time (general): Weight-based doses in divided doses daily, usually for 5–10 days, depending on infection site and national guidelines.
Side effects: Allergy, rash, diarrhea, disruption of gut bacteria.
Note: In some children with urinary tract anomalies or heart defects, prophylactic antibiotics may be considered before specific procedures.
8. Acetaminophen (paracetamol) – pain and fever
Class: Analgesic and antipyretic.
Purpose & mechanism: Reduces pain and fever by acting on central nervous system pathways.
Dosage/time (general): Weight-based dosing every 4–6 hours, with a strict maximum daily dose to avoid liver toxicity.
Side effects: Usually well tolerated at correct doses; overdose can cause severe liver injury.
Note: Widely used after surgeries (cleft palate, anal atresia, orthopedic procedures).
9. Eye lubricating drops and ointments
Class: Tear substitutes.
Purpose & mechanism: Protects the eye surface in people with coloboma or incomplete eyelid closure by keeping the cornea moist. All About Vision+1
Dosage/time (general): Applied several times daily; thicker gels or ointments at night.
Side effects: Temporary blurred vision or mild irritation.
Note: Helps prevent corneal damage and improves comfort.
10. Other condition-specific drugs
Depending on the child’s situation, doctors may use additional standard drugs (e.g., beta-blockers for certain heart conditions, anti-arrhythmic medicines, or vitamin D for bone health). They are chosen according to existing guidelines for the specific organ problem, not for CES itself. NCBI+2Medicover Hospitals+2
Dietary molecular supplements
There are no supplements proven to cure Cat Eye Syndrome. The supplements below are general supports for growth, immunity, and eye or bone health; dosages must be set by a clinician or dietitian, especially in kidney or liver disease.
Vitamin D – Helps calcium absorption and bone strength, important when children are small, have limited sun exposure, or take medicines affecting bones. Typical maintenance doses follow national pediatric guidelines; overdose can harm kidneys.
Calcium – Supports bone and tooth mineralization. It is often provided mainly through diet (dairy, fortified foods) and sometimes supplements if intake is low. Dose depends on age and kidney function; excess can cause kidney stones.
Omega-3 fatty acids (EPA/DHA) – May support heart and brain health. Commonly given as fish-oil capsules or liquid, using age-appropriate doses. Side effects can include fishy aftertaste and mild stomach upset; very high doses may affect bleeding.
Lutein and zeaxanthin – Carotenoids concentrated in the retina; they may support overall eye health. Evidence is mainly from adult macular studies; pediatric use should be cautious and supervised.
Iron – Given when anemia is present. Iron supports red-blood-cell production and oxygen transport. Dose is strictly weight-based; excess iron can be toxic, and constipation is common.
Vitamin B12 and folate – Important for blood formation and nervous-system function. Used if deficiency is documented. Dosing depends on severity; injections are sometimes used.
Zinc – Supports immune function and wound healing. Supplementation is usually short-term, at doses within recommended dietary allowances; high doses can upset the stomach and affect copper levels.
Probiotics – Certain strains may help bowel health and reduce antibiotic-associated diarrhea. Evidence varies by product; doses are usually given once or twice daily. Immunocompromised patients need special caution.
Multivitamin preparations – Low-dose preparations may help in children with poor appetite or restricted diets, but high-dose products are discouraged. Formulation is chosen according to age and kidney status.
Protein-energy supplements – High-calorie formulas or powders can support growth in children who cannot meet needs through food. Dietitians select products tailored to cardiac or renal restrictions and adjust amounts over time.
Immune-supporting and regenerative approaches
At present, there are no approved “stem cell drugs” or gene therapies specifically for Cat Eye Syndrome. Any experimental therapy should be given only in regulated clinical trials at specialist centers. NCBI+2BioMed Central+2
1. Standard vaccination
Routine vaccines (and any extra vaccines advised for heart or kidney disease) are the safest and most effective immune “boosters” for CES. They work by training the immune system to recognize pathogens, lowering the risk of severe infections that can stress the heart, kidneys, or lungs.
2. Good nutrition and infection control
Simple measures like balanced diet, adequate protein, sleep, handwashing, and prompt treatment of infections support the immune system better than unproven “immune booster” products.
3. Hematopoietic stem cell transplantation (HSCT) – only for specific associated conditions
HSCT is not standard for CES itself, but might be considered if the person develops a separate severe blood disorder that has HSCT as a guideline-supported treatment. It replaces diseased bone marrow with donor stem cells. It carries high risks (infection, graft-versus-host disease) and is reserved for life-threatening indications.
4. Experimental gene- or cell-based therapies
Some research groups explore gene-therapy and cell-therapy strategies for chromosomal and eye disorders, but no approved gene or stem-cell cure for CES exists today. Families should be very cautious about commercial “stem cell clinics” that operate without regulatory oversight.
5. Medicines that indirectly support tissue health
Growth hormone (somatropin) and carefully managed vitamin D and calcium can indirectly support growth, bone, and muscle health, but they are not regenerative cures; they correct specific hormone or nutrient deficits.
Surgeries
Surgery in CES depends on which organs are affected. All About Vision+2EyeMantra+2
1. Repair of anal atresia
Procedure: Pediatric surgeons create or open an anal passage and reconnect the bowel to the outside, sometimes in stages with a temporary colostomy.
Why it is done: To allow stool to pass normally, prevent life-threatening bowel obstruction, and reduce infection and long-term bowel problems.
2. Cardiac surgery for congenital heart defects
Procedure: Surgery may repair or redirect abnormal blood flow, close holes, or correct complex defects like total anomalous pulmonary venous return (TAPVR).
Why it is done: To improve oxygen delivery, reduce strain on the heart and lungs, and prevent heart failure or pulmonary hypertension.
3. Cleft lip and/or palate repair
Procedure: Plastic surgeons reconstruct the lip and palate, usually in staged operations during infancy and early childhood.
Why it is done: To improve feeding, speech development, ear health, and appearance, and to support social and emotional well-being.
4. Eye surgery for associated anomalies
Procedure: Eye surgeons may correct strabismus (eye turning), remove cataracts, repair eyelids, or refine appearance. Coloboma itself is not always surgically correctable, but associated problems often are.
Why it is done: To improve vision where possible, protect the eye, and enhance cosmetic appearance.
5. Urogenital and renal reconstructive surgery
Procedure: Operations may repair urinary tract obstruction, reflux, or structural kidney/ureter anomalies.
Why it is done: To protect kidney function, reduce urinary infections, and improve continence and quality of life.
Prevention – what can and cannot be prevented
You cannot prevent Cat Eye Syndrome itself once the chromosomal change is present. However, some things can be prevented or reduced in risk:
Recurrence in future pregnancies: Genetic counseling, carrier testing, and options such as prenatal diagnosis can reduce unexpected recurrence. Orpha+2Rare Chromo+2
Severe infections: Vaccines, hand hygiene, avoiding smoke exposure, and early treatment of fevers.
Heart and kidney complications: Regular follow-up, adherence to medical advice, and managing blood pressure and fluid status.
Tooth decay and gum disease: Good oral hygiene and regular dental visits, especially when heart disease is present.
Nutritional failure: Early dietitian review, feeding therapy, and regular growth monitoring.
Spinal curve progression (to some degree): Early detection of scoliosis and adherence to bracing and physiotherapy plans.
Vision loss from treatable problems: Regular eye exams, prompt treatment of cataracts or high pressure, and protection from sun.
Psychological distress: Early mental health support, school counseling, and involvement in support groups.
Surgical complications: Careful pre-operative planning by experienced centers and close post-operative follow-up.
Medication side effects: Using the lowest effective doses, regular blood tests, and prompt reporting of new symptoms.
When to see a doctor urgently
People with Cat Eye Syndrome should have regular planned reviews, but some situations need urgent medical attention:
New or worsening breathing problems, blue lips, or severe tiredness (possible heart failure or lung infection).
Swelling of legs, face, or sudden weight gain (possible kidney or heart problem).
Fever in an infant, or fever with lethargy, severe pain, or breathing problems.
New seizures, unusual shaking, or loss of consciousness.
Severe vomiting, abdominal distension, or no bowel movement with pain (possible bowel obstruction).
Sudden severe headache, vomiting, visual changes, or behavior change.
Decreased urine output, very dark urine, or blood in urine.
Signs of severe drug reaction such as swelling of the face or tongue, breathing difficulty, or widespread rash.
Regular, non-urgent visits should cover growth, development, heart and kidney status, eye and hearing checks, dental care, and school progress. Medicover Hospitals+3NCBI+3NCBI+3
What to eat and what to avoid
Diet is individual and must fit any heart or kidney restrictions, but some general ideas apply:
Eat: Balanced, home-cooked meals – Include vegetables, fruits, whole grains, and lean proteins to support growth and immunity.
Eat: Adequate protein – Eggs, fish, lean meat, lentils, and dairy help build muscle and repair tissues, especially after surgery (unless restricted by kidney disease).
Eat: Healthy fats – Sources like fish, nuts (if safe), and plant oils support brain and heart health.
Eat: Calcium and vitamin D sources – Dairy, fortified milks, and safe sun exposure or supplements, as advised, to support bones.
Eat: Fiber and fluids – Fruits, vegetables, whole grains, and enough water or prescribed fluids help prevent constipation.
Avoid: Very salty foods – Chips, processed meats, and instant noodles can overload the heart and kidneys if they are already stressed.
Avoid: Very sugary drinks and snacks – Soft drinks, sweets, and sugary juices add calories without nutrients and may worsen dental and metabolic problems.
Avoid: Unpasteurized or unsafe foods – Especially if the child is medically fragile or immunocompromised.
Avoid: High-dose, unregulated supplements – “Mega-dose” vitamins or herbal products can damage liver or kidneys and often lack evidence.
Avoid: Caffeine and energy drinks in older children – They can affect sleep, heart rate, and blood pressure.
A dietitian should personalize all of this, particularly if there is kidney involvement or significant heart failure. National Organization for Rare Disorders+2EyeMantra+2
Frequently asked questions (FAQs)
1. Is there a cure for Cat Eye Syndrome?
No. CES is caused by an extra piece of chromosome 22. Current medicine cannot remove or correct this extra chromosome in all body cells. Treatment focuses on each symptom or organ problem, such as heart defects, bowel anomalies, eye issues, and learning difficulties. Orpha+2Wikipedia+2
2. Can Cat Eye Syndrome be mild?
Yes. Some people have only subtle features, such as ear tags or mild eye changes, and may lead almost typical lives. Others have serious heart, kidney, or bowel abnormalities. Severity varies widely, even inside the same family. PubMed+2Monarch Initiative+2
3. How is Cat Eye Syndrome diagnosed?
Doctors suspect CES when they see the classic features (iris coloboma, anal atresia, preauricular tags) and confirm the diagnosis with chromosome testing such as karyotype, FISH, or chromosomal microarray showing a small supernumerary marker chromosome derived from chromosome 22. NCBI+2Wikipedia+2
4. Why are heart and kidney tests important?
Because heart and kidney malformations are common in CES, even if the baby looks well at first. Early echocardiograms and kidney ultrasounds help detect treatable problems and guide follow-up, reducing the risk of heart failure or kidney damage. Orpha+2EyeMantra+2
5. Will my child definitely have learning disabilities?
Not always. Many people with CES have normal or near-normal intelligence; about one-third have some learning difficulties. Early developmental intervention, special education, and a supportive environment can improve outcomes. National Organization for Rare Disorders+2EMBL-EBI+2
6. Is Cat Eye Syndrome inherited?
It can be, but often happens for the first time in a family. Some parents carry the marker chromosome in some of their cells (mosaicism) and can pass it on even if they appear healthy. Genetic counseling and family testing are important to clarify this. Orpha+2Rare Chromo+2
7. Can future pregnancies be tested?
Yes. If CES is known in the family, prenatal diagnosis (chorionic villus sampling or amniocentesis with chromosome studies) or preimplantation genetic testing may be possible. A genetic counselor and maternal-fetal medicine specialist can explain the options and limits. Orpha+2Rare Chromo+2
8. Are there special precautions for surgery and anesthesia?
Yes. Anesthesia teams must know about heart, kidney, airway, and skeletal problems. Pre-operative tests and careful monitoring reduce risks. Whenever possible, surgery should be done in centers that are experienced with complex congenital conditions. NCBI+2EyeMantra+2
9. Does Cat Eye Syndrome get worse over time?
The chromosome change itself does not “spread,” but its effects can evolve. Some problems appear at birth, others develop later (like scoliosis or learning difficulties). Regular monitoring helps catch new issues early and treat them promptly. NCBI+2PubMed+2
10. Are special “immune booster” or “stem cell” products recommended?
No commercial immune-booster or stem-cell product is proven to treat CES. The most important immune protection is regular vaccination, good nutrition, infection control, and prompt treatment of illness. Experimental cell therapies should be used only in regulated clinical trials. NCBI+2BioMed Central+2
11. Can adults with Cat Eye Syndrome lead independent lives?
Some adults with mild forms of CES have jobs, families, and largely independent lives; others need ongoing support. Independence depends on organ involvement, learning abilities, mental health, and the quality of available social and medical support. Decipher Genomics+1
12. How often should my child see doctors?
In early years, visits are usually frequent (every few months) to monitor growth, development, heart, kidneys, and post-surgical results. Later, many individuals move to annual or semiannual reviews with cardiology, nephrology, ophthalmology, and primary care, depending on their situation. NCBI+2Medicover Hospitals+2
13. Can physical activity be dangerous?
Most children benefit from supervised activity. However, if there is a significant heart or lung defect, intensive or competitive sports may need limits. Cardiologists can do exercise testing and give individualized advice about safe levels and warning symptoms. All About Vision+1
14. Does Cat Eye Syndrome always include the “cat-eye” appearance?
No. The iris coloboma that gives the “cat-eye” look is present in only about half of reported cases. Some people with CES have no obvious eye features but have other characteristic malformations or chromosome findings. NCBI+2Wikipedia+2
15. Where can families find reliable information and support?
Trusted sources include national rare-disease organizations, chromosome-disorder foundations, and peer-reviewed resources like Orphanet, NORD, and GeneReviews, as well as patient organizations specifically for cat eye syndrome. MalaCards+4National Organization for Rare Disorders+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: November 13, 2025.
