Schmid-Fraccaro syndrome (cat eye syndrome) is a rare genetic condition that a baby is born with. It happens when the baby has an extra small piece of chromosome 22, called a small supernumerary marker chromosome. This extra piece contains the short arm (22p) and part of the long arm (22q11) of chromosome 22, so the child has three or even four copies of that part instead of the usual two.Wikipedia+1
Because there is extra genetic material, the instructions for building the body are “too many” or unbalanced. This can affect how many organs form, especially the eyes, ears, anus, heart, kidneys, face, bones, and sometimes the brain and nerves. The syndrome got the name “cat eye syndrome” because some children have a special eye defect called an iris coloboma, which can make the pupil look long and vertical, like a cat’s eye. However, more than half of patients do not have this eye sign, so the name can be misleading.NCBI+1
Doctors often describe a classic triad (three common features):
Iris coloboma (a gap in the colored part of the eye)
Anal atresia or anal malformation (the anal opening is missing or abnormal)
Preauricular skin tags or pits (small skin bumps or holes in front of the ears)
Many children also have heart defects, kidney problems, facial differences, and sometimes developmental delays, but the severity can be very different from person to person. Some people have only mild features and may be diagnosed later in life.National Organization for Rare Disorders+2Orpha+2
Schmid-Fraccaro syndrome is very rare. Studies estimate the condition occurs in about 1 in 50,000 to 1 in 150,000 births, and it affects boys and girls equally.All About Vision+1
Other names
Schmid-Fraccaro syndrome is known by several other names in the medical literature. These names reflect how the chromosome looks or which part is duplicated:
Cat eye syndrome (CES) – the most common name
Schmid-Fraccaro syndrome – eponym name after early researchers
Partial tetrasomy 22 – four copies of part of chromosome 22
Partial trisomy 22 – three copies of part of chromosome 22
Chromosome 22 partial tetrasomy (22pter–22q11)
Chromosome 22 partial trisomy (22pter–22q11)
inv dup(22)(pter→q11) or inversion–duplication 22 – description of the special extra chromosome
Cat-eye syndrome / chromosome 22 inversion duplication
Coloboma–anal atresia syndrome (older descriptive term)
Genetic organizations such as Orphanet and RareChromo list these alternative names and confirm they all refer to the same core condition caused by extra chromosome 22 material.Rare Chromo+1
Types and clinical patterns
Doctors do not always use strict “types” the way we do for some diseases, but we can think of Schmid-Fraccaro syndrome in a few useful categories.
Types by chromosome pattern
Typical cat eye chromosome (inv dup 22)
This is the classic pattern where there is a small extra chromosome made from the tip of 22p and nearby 22q11, arranged as an inverted duplication. It usually causes partial tetrasomy of this region (four copies).News-Medical+1Partial trisomy 22
In some people the extra piece results in three copies (trisomy) instead of four. The clinical picture can be similar, but sometimes a little milder.Wikipedia+1Atypical or variant marker chromosome 22
The size and shape of the extra chromosome can differ. Some extra chromosomes are larger, ring-shaped, or have slightly different breakpoints on 22q11. This can change which genes are duplicated and may modify which organs are affected or how severe the malformations are.Wiley Online Library+1Mosaic cat eye syndrome
In mosaic cases, not all cells in the body carry the extra chromosome. Some cells are normal and some are affected. Mosaic forms often produce milder features, and diagnosis may be delayed until later childhood or adulthood.Rare Chromo
Types by clinical severity
Complete or “classic triad” form
These patients show the full triad – iris coloboma, anal malformation, and preauricular tags/pits – plus other defects such as heart or kidney anomalies. They are easier to recognize at birth.Orpha+1Partial or “incomplete” form
Many people do not show all parts of the triad. For example, a child might have anal atresia and ear tags but no coloboma. These partial forms are common and make diagnosis more difficult.Wiley Online Library+1Mild form with few external signs
Some individuals have only minor facial features or small ear tags and maybe a mild heart defect. They can have a normal life span and may only learn about the syndrome after a child or another family member is tested.Rare ChromoSevere multisystem form
In more severe cases, there can be complex heart defects (like total anomalous pulmonary venous return), serious kidney malformations, biliary atresia, and strong developmental delay. These children may require multiple surgeries and intensive medical care.NCBI+2Wiley Online Library+2Form with prominent neurologic involvement
Some case reports describe children with Schmid-Fraccaro syndrome who have significant brain, motor, and cognitive problems, including seizures and major motor delay. Neurologic severity does not always match the external malformations, which shows that the extra chromosome 22 can also disrupt brain development.ScienceDirect+1
Causes
The true root cause is always the same: extra genetic material from chromosome 22 (22pter–22q11). But there are many ways this can occur and many contexts in which it appears. Here are 20 “causes” explained in simple language:
Small supernumerary marker chromosome 22
The most direct cause is an extra tiny chromosome built from parts of chromosome 22. This extra piece carries duplicated genes and leads to Schmid-Fraccaro syndrome.Wikipedia+1Partial tetrasomy 22q11
In many patients, the extra piece causes four copies of genes between 22pter and 22q11 instead of two. The extra dose of these genes disrupts normal development.News-Medical+1Partial trisomy 22q11
In some, the extra DNA produces three copies rather than four. The basic mechanism is the same: too many gene copies change organ formation.Wikipedia+1Inversion–duplication of chromosome 22 (inv dup 22)
The extra chromosome often forms because a segment of 22 copies itself and flips (inverts), then attaches end-to-end, making a duplicated, inverted segment. This complex error during cell division creates the typical CES chromosome.News-Medical+1Errors during egg formation (meiotic nondisjunction)
Many cases arise because the mother’s egg-producing cells make a mistake when splitting chromosomes, leaving the egg with an extra 22 segment. When fertilization occurs, the embryo has the extra piece.Wikipedia+1Errors during sperm formation
Less commonly, the father’s sperm-producing cells can also make a similar mistake in chromosome separation, so the sperm carries the abnormal 22 marker.Post-zygotic errors in early embryo cells
Sometimes the extra chromosome appears after fertilization, when the early embryo is dividing. This can lead to mosaic CES, where only some body cells carry the extra piece.Rare Chromo+1Parental balanced rearrangement involving chromosome 22
Rarely, a healthy parent may carry a balanced translocation or inversion of chromosome 22. Their chromosomes look unusual but have all the genetic content. When they form eggs or sperm, the balance can be lost, and a child can receive an extra unbalanced piece of 22, causing CES.Frontiers+1Parental mosaicism for the CES marker
A parent might have the extra chromosome in only some cells (mosaic) but be mildly affected or appear normal. They can still pass the extra chromosome to a child, who then has more widespread involvement and clear CES features.Rare ChromoLow-copy repeat (LCR) regions in 22q11
The 22q11 region has many repeated DNA blocks that make it fragile and prone to rearrangements. These LCRs act as “hotspots” where duplication and inversion can occur, leading to the CES chromosome.News-Medical+1Genes located in the CES critical region
Certain genes (such as CECR1, SLC25A18, ATP6V1E1) lie in the duplicated segment and are suspected to drive many features when present in extra copies, particularly anorectal, ear, and kidney anomalies.Wikipedia+1De novo (new) mutations with no family history
Most patients arise from a completely new chromosome error in that pregnancy, without any previous family cases. This “de novo” origin is a cause in itself and explains why parents are usually chromosomally normal.National Organization for Rare Disorders+1Familial transmission of the CES chromosome
In some families, the extra chromosome 22 is inherited from an affected or mosaic parent. The child’s syndrome is caused by getting this abnormal chromosome through normal reproduction.Frontiers+1Large marker chromosomes including more 22q material
When the extra chromosome is larger and includes more of 22q, more genes are duplicated. This increased dosage can worsen malformations, especially of heart and kidneys.Wiley Online Library+1Ring marker chromosomes 22
Sometimes the extra 22 forms a ring. A ring can behave unstably during cell division and lead to mosaicism or variable gene dosage, contributing to diverse symptoms.Wikipedia+1Complex rearrangements involving multiple chromosomes
A few reported patients have CES features plus other chromosomal changes. Complex rearrangements can increase gene imbalance and contribute to more severe disease.Wiley Online Library+1General chromosomal nondisjunction risk factors (e.g., maternal age)
For many chromosomal disorders, older maternal age slightly increases risk. Data specific to CES are limited, but it is reasonable to think that general risk factors for chromosome separation errors might also contribute here.News-MedicalGermline instability in 22q11 region
The 22q11 region is known from other conditions (like 22q11 deletion syndrome) to be unstable. Families with one rearrangement in that region may have a slightly higher risk of others, including CES-type duplications.News-Medical+1Chance events in cell division
In many cases, there is no identifiable external factor. The cause is simply a random error when cells divide. Parents should be reassured that nothing they did caused this.National Organization for Rare Disorders+1Currently unknown environmental or genetic modifiers
Scientists suspect that additional background genes and perhaps rare environmental influences modify severity, but no clear “external cause” has been proven. Research continues, so we list “unknown modifiers” as a final cause category.Wiley Online Library+1
Symptoms and signs
Now we look at 15 main symptoms or physical signs. Not every person has all of them, and severity is very variable.
Iris coloboma (“cat eye” appearance)
This is a missing piece in the colored part of the eye. It usually appears as a vertical gap below the pupil, making the pupil look long or keyhole-shaped, similar to a cat’s eye. Some people have coloboma in one eye, others in both. It can cause problems with vision and light sensitivity, but some people see fairly well.NCBI+1Anal atresia or anal malformation
The anal opening may be missing, too small, or in the wrong position. This can stop stool from passing, so the baby’s abdomen swells and they cannot pass meconium. It is a serious condition that usually requires surgery soon after birth.Orpha+1Preauricular skin tags and pits
Small extra pieces of skin (tags) or tiny holes (pits) often appear just in front of the ears. They may not cause medical problems but are very helpful clues for diagnosis when they appear together with other features.Orpha+1Facial differences (dysmorphism)
Many children have subtle facial traits: downward-slanting eyelid openings, widely spaced eyes, a broad nasal bridge, or a small lower jaw. These features are usually not harmful by themselves but contribute to the overall pattern doctors recognize.Wikipedia+1Cleft palate or high-arched palate
Some babies have a split in the roof of the mouth (cleft palate) or a very high arched palate. This can cause feeding problems, nasal speech, and frequent ear infections, often needing surgery and speech therapy.National Organization for Rare Disorders+1Heart defects
Heart problems range from mild to severe. A classic defect in cat eye syndrome is total anomalous pulmonary venous return (TAPVR), where the veins from the lungs do not connect correctly to the heart. Other holes between chambers (ASD, VSD) or valve problems can also occur. These may cause poor feeding, fast breathing, or poor weight gain.NCBI+1Kidney and urinary tract anomalies
The kidneys may be missing, small, duplicated, or placed abnormally. There can also be reflux of urine from the bladder back toward the kidney. These problems can lead to high blood pressure, urinary infections, or reduced kidney function if not monitored.National Organization for Rare Disorders+1Biliary atresia and liver problems
A few children have blockage or absence of the bile ducts (biliary atresia). This causes jaundice, pale stools, dark urine, and poor growth. It is a serious problem that often needs early surgery and close liver care.Wikipedia+1Skeletal abnormalities (spine, ribs, limbs)
Some patients have scoliosis, abnormal vertebrae, rib differences, or other skeletal changes. These can cause posture problems, back pain, or breathing issues in severe cases.ScienceDirect+1Short stature and growth delay
Many children with Schmid-Fraccaro syndrome grow more slowly than average. Growth hormone deficiency has been described in some cases. Monitoring height and weight over time is important.SAS Publishers+1Genital and urogenital anomalies
Some boys have hypospadias (the urethral opening is not at the tip of the penis), undescended testes, or other genital differences. Girls may have uterine or vaginal anomalies. These can affect fertility or menstruation later in life.SAS Publishers+1Hearing loss
Conductive or sensorineural hearing loss is reported. This may be due to frequent ear infections, structural ear changes, or inner ear issues. Regular hearing checks are recommended, especially in early childhood.Rare Chromo+1Vision problems beyond coloboma
People may have reduced vision, strabismus (eye misalignment), refractive errors, or nystagmus (shaking eyes). These require follow-up with an eye specialist and sometimes glasses or surgery.NCBI+1Developmental delay and learning difficulties
Around one-third of patients have mild to moderate intellectual disability, speech delay, or learning problems, while others are almost normal in development. Early speech, occupational, and physical therapy can improve skills.Wikipedia+1Neurologic problems (seizures, motor delay)
Some reported patients have seizures, poor muscle tone, or coordination problems. These are more common in severe cases or those with brain imaging abnormalities. Neurologic evaluation and EEG may be needed.ScienceDirect+1
Diagnostic tests
Diagnosis usually starts with a physical exam at birth, then uses genetic tests to confirm the extra chromosome 22. Additional tests look for heart, kidney, liver, hearing, and developmental problems. Below are 20 tests grouped as you requested.
Physical exam tests
Full newborn physical and dysmorphology exam
The doctor carefully looks at the whole body of the newborn. They check the face, eyes, ears, chest, abdomen, spine, limbs, anus, and genitals. In Schmid-Fraccaro syndrome, they may see anal atresia, ear tags, unusual facial features, or limb differences. This first exam raises the suspicion that a syndromic condition is present.NCBI+1Focused eye examination with light and ophthalmoscope
The pediatrician or ophthalmologist shines a light in the eyes and uses an ophthalmoscope to look at the iris, pupil, and retina. They look for iris coloboma (a key sign), nystagmus, or other eye anomalies that might explain visual problems.Wikipedia+1Anorectal and genital examination
The doctor inspects the perineal area to see if the anal opening is present, in the correct position, and of adequate size. They also check genitals for differences like hypospadias or undescended testicles. This exam is essential because anal atresia is a surgical emergency in newborns.Orpha+1Ear and craniofacial examination
The ears are checked for preauricular tags, pits, unusual shape or placement. The face is examined for jaw size, nasal shape, and eye spacing. These small details help build the overall picture of Schmid-Fraccaro syndrome when combined with other signs.Orpha+1
Manual / bedside functional tests
Developmental assessment (e.g., Bayley scales)
A psychologist or therapist observes how the child moves, talks, plays, and interacts. Standardized tests compare the child’s abilities to age norms. In cat eye syndrome, results may show delays in motor skills, language, or problem-solving, which guide early intervention.NCBI+1Neurological examination of tone, reflexes, and coordination
The clinician manually checks muscle tone in the arms and legs, deep tendon reflexes, and coordination (for older children). Abnormal tone, weak reflexes, or poor coordination can suggest brain or nerve involvement and help decide whether more tests like MRI or EEG are needed.ScienceDirect+1Orthopedic / spine assessment
The doctor feels the spine and looks at posture to detect scoliosis or vertebral anomalies. They may measure limb lengths and joint mobility. This simple bedside exam identifies skeletal problems that may need imaging or later orthopedic treatment.ScienceDirect+1Feeding and speech/swallowing evaluation
Speech or feeding therapists observe how the baby sucks, swallows, and later chews and speaks. A high-arched or cleft palate, weak muscles, or coordination issues can cause feeding difficulty and speech delay. Early detection helps plan therapies and nutrition support.National Organization for Rare Disorders+1
Lab and pathological tests
Conventional karyotype (chromosome analysis)
A blood sample is taken, white blood cells are grown, and chromosomes are examined under a microscope. In Schmid-Fraccaro syndrome, the lab usually sees a tiny extra marker chromosome derived from chromosome 22. Karyotype is the classic way to confirm the diagnosis.Wikipedia+1FISH (fluorescence in situ hybridization) for 22q11
FISH uses fluorescent DNA probes that attach to specific regions on chromosome 22. In CES, extra signals for 22q11 can be seen on the marker chromosome. FISH is useful to clarify whether the marker really comes from chromosome 22 and to distinguish CES from other 22q disorders.Wikipedia+1Chromosomal microarray analysis (CMA)
CMA looks at DNA across all chromosomes to find extra or missing pieces. In Schmid-Fraccaro syndrome, it shows duplication of the 22pter–22q11 region, often called the “CES critical region.” CMA gives more precise information about the size of the duplication, which may relate to severity.Frontiers+1qPCR or MLPA assays for 22q11 dosage
Quantitative PCR or multiplex ligation-dependent probe amplification are molecular tests that measure how many copies of specific genes there are. They can confirm that genes in the CES region (such as CECR1) are present in three or four copies instead of two. This is helpful when the marker chromosome is small or mosaic.News-Medical+1Kidney function blood tests (creatinine, urea, electrolytes)
These routine blood tests check how well the kidneys are working. Many patients with Schmid-Fraccaro syndrome have structural kidney problems, so monitoring kidney function is important to guide treatment and prevent long-term damage.National Organization for Rare Disorders+1Liver function tests and bilirubin
In cases with jaundice or suspected biliary atresia, liver enzymes and bilirubin levels are measured. Abnormal results suggest bile flow problems or liver stress. In CES, these tests can help decide whether urgent imaging or surgery is needed.Wikipedia+1
Electrodiagnostic tests
Electrocardiogram (ECG)
ECG measures the electrical activity of the heart. It can detect rhythm problems, conduction delays, or strain due to structural heart defects. In cat eye syndrome, ECG is often done along with echocardiography to fully evaluate cardiac involvement.NCBI+1Auditory brainstem response (ABR) / hearing electrophysiology
ABR uses small electrodes and earphones to measure how the hearing nerve and brainstem respond to sounds. It is especially useful for babies and children who cannot cooperate with standard audiometry. Because hearing loss is common in CES, ABR helps detect and grade it early.Rare Chromo+1Electroencephalogram (EEG)
EEG records electrical signals from the brain using electrodes on the scalp. It is indicated if the child has seizures, unusual spells, or significant developmental delay. In some Schmid-Fraccaro cases with neurologic features, EEG findings can guide anti-seizure treatment and prognosis.ScienceDirect+1
Imaging tests
Echocardiography (heart ultrasound)
Echo uses ultrasound to create moving images of the heart. It can show holes, abnormal connections like TAPVR, valve problems, and how well the heart pumps. In any baby with suspected cat eye syndrome, echocardiography is a key test because heart defects greatly influence outcome.NCBI+1Renal and abdominal ultrasound
This painless scan shows the kidneys, bladder, and abdominal organs. It can detect missing or duplicated kidneys, hydronephrosis, liver and bile duct problems, and other malformations linked with Schmid-Fraccaro syndrome.National Organization for Rare Disorders+1Spinal and skeletal X-rays / MRI (when indicated)
X-rays of the spine and chest can reveal abnormal vertebrae, scoliosis, or rib anomalies. If neurologic problems are present, MRI of the brain or spine may be ordered to look for structural changes. These images help plan orthopedic and neurologic care.ScienceDirect+1
Non-pharmacological treatments (therapies and other care)
These are key parts of management for Schmid-Fraccaro (cat eye) syndrome. In real life, your medical team chooses which ones are needed.
1. Early developmental stimulation therapy
Early developmental therapy is a program of structured play, movement, and learning activities started in the first months of life. Purpose: to help the child reach milestones like head control, sitting, crawling, walking, and basic communication as close to age-appropriate as possible. Mechanism: repeated practice of movement, touch, sound, and social interaction strengthens nerve connections in the brain (neuroplasticity), supports muscle tone, and reduces delay due to long hospital stays or surgeries. Parents are trained to repeat simple exercises every day at home so the brain and muscles are stimulated many times, not only during clinic visits. NCBI+1
2. Physiotherapy (physical therapy)
Physiotherapy uses exercises, stretching, positioning, and sometimes splints to improve posture, balance, and walking. Purpose: to prevent joint stiffness, muscle weakness, and spine or hip problems that can develop when a child spends long periods in bed because of heart or kidney disease or after surgery. Mechanism: regular, gentle loading of muscles and joints maintains muscle strength and joint range of motion, improves circulation, and supports better lung expansion. This can reduce fatigue, improve tolerance of daily activities, and help children participate more in school and play. NCBI+1
3. Occupational therapy
Occupational therapy (OT) helps a child learn daily living skills, such as feeding, dressing, toileting, and using hands for play and school tasks. Purpose: to promote independence and adapt tasks to any physical or vision problems from CES. Mechanism: OT breaks each skill into tiny, achievable steps and uses repetition, adaptive tools (special spoons, grips, seating), and environmental changes to make the task easier. This reduces frustration, supports self-confidence, and allows the child to function better at home and in school even if they have physical or learning difficulties. Rare Chromo+1
4. Speech and language therapy
Many children with CES have delays in speech or difficulty with feeding and swallowing. Speech therapy includes oral-motor exercises, sound practice, picture-based communication, and feeding strategies. Purpose: to improve speech clarity, understanding, safe swallowing, and overall communication. Mechanism: repeated stimulation of the muscles of the mouth and throat plus structured practice with sounds and words trains brain areas that control speech and swallowing. Alternative systems (signs, picture boards, electronic devices) may be used so the child can communicate even if speech is limited. NCBI+1
5. Low-vision and eye-care rehabilitation
When CES causes iris coloboma or other eye problems, low-vision therapy can help. Purpose: to maximize remaining vision and protect the eyes from damage. Mechanism: ophthalmologists and orthoptists may prescribe tinted lenses for light sensitivity, magnifiers, large-print books, and contrast-enhancing tools. Patching may be used for amblyopia. Early visual stimulation exercises encourage the child to track lights and objects, helping the brain’s visual areas develop as well as possible despite structural eye changes. All About Vision+1
6. Hearing support and audiology care
Ear tags, middle ear problems, or structural ear changes may affect hearing in CES. Purpose: to detect hearing loss early and support speech and learning. Mechanism: regular hearing tests in infancy and childhood identify any loss; early fitting of hearing aids, bone-conduction devices, or other aids helps provide clear sound to the brain. This supports normal development of speech and language and improves attention and learning in school. Parents are taught how to keep devices clean and working correctly. Rare Chromo+1
7. Bowel management and toileting programs
Anal atresia or surgery on the bowel can cause long-term constipation, leakage, or difficulty controlling stools. Purpose: to give the child predictable, comfortable bowel movements and protect skin. Mechanism: bowel management plans may include scheduled toilet sitting, abdominal massage, stool diaries, and sometimes enemas or rectal irrigation taught by nurses. Using a fixed routine trains the bowel and brain to expect stool at certain times, reduces accidents, and protects social confidence. Physiotherapists may also teach pelvic floor relaxation and strengthening exercises as the child grows. Orpha+1
8. Nutritional and feeding therapy
Feeding can be difficult after abdominal surgery, with heart failure, or with poor oral muscle coordination. Purpose: to ensure enough calories, protein, vitamins, and fluids for growth while protecting the lungs from aspiration. Mechanism: dietitians calculate energy needs; speech or feeding therapists adjust food texture and position during feeding. Some children may need temporary tube feeding (nasogastric or gastrostomy) to safely deliver nutrition. Careful monitoring of weight, electrolytes, and growth charts guides gradual changes in feeding plans. NCBI+1
9. Cardiac monitoring and rehabilitation
Many patients have congenital heart defects. Purpose: to monitor heart function, detect complications early, and improve exercise tolerance. Mechanism: regular visits to a pediatric cardiologist include echocardiograms, ECG, and clinical exams. After surgery or in mild heart defects, supervised cardiac rehabilitation programs use gentle, progressively increased activity with close monitoring of pulse and oxygen levels. This helps the heart and circulation adapt safely to higher activity levels and supports better quality of life. NCBI+1
10. Renal (kidney) supportive care
Kidney malformations are common in CES. Purpose: to protect kidney function, manage blood pressure, and reduce infections. Mechanism: nephrologists schedule regular blood tests, urine tests, and ultrasound scans. Families are taught about adequate hydration, avoiding unnecessary nephrotoxic drugs, and early treatment of urinary tract infections. Dietary changes (salt control, protein adjustment) may be recommended depending on kidney function, guided by lab results. These steps slow kidney damage and reduce hospitalizations. NCBI+1
11. Special education and learning support
Some children with CES have mild to moderate learning difficulties; others are near normal. Purpose: to give individualized education that matches the child’s abilities and challenges. Mechanism: psychologists and educators perform tests and create individual education plans (IEPs). These plans may use smaller class sizes, extra time for tasks, visual supports, and repetition. Teachers learn about the child’s vision/hearing limits and adjust teaching methods. Early educational support improves academic skills, social interaction, and long-term independence. Rare Chromo+1
12. Psychosocial counseling for family and patient
Raising a child with a rare syndrome is stressful. Purpose: to support emotional health, coping, and family communication. Mechanism: counselors and psychologists offer individual and family sessions, teach coping strategies, and help families manage anxiety, grief, and decision-making around surgeries or intensive care. Support groups and rare-disease organizations allow families to meet others facing similar issues, reducing isolation and sharing practical tips. National Organization for Rare Disorders+1
13. Genetic counseling
Genetic counseling explains why the syndrome occurred, recurrence risk, and testing options for parents and relatives. Purpose: to help families make informed choices about future pregnancies and to understand the child’s condition in simple terms. Mechanism: geneticists review the child’s chromosome test, discuss whether the extra chromosome 22 is de novo or inherited, and may suggest parental chromosome studies. They explain prenatal diagnostic options (chorionic villus sampling, amniocentesis) and what these tests can and cannot tell. Wikipedia+1
14. Regular multi-system screening
Because many organs can be affected, regular screening schedules are important. Purpose: to catch problems early, before they cause irreversible damage. Mechanism: clinicians plan periodic checks of eyes, ears, heart, kidneys, growth, development, and spine. For example, annual echocardiograms in early childhood, periodic renal ultrasound, and regular hearing and vision tests. Timely detection allows faster treatment, which improves long-term outcome. NCBI+1
15. Care coordination / case management
Children with CES often see many specialists. Purpose: to avoid gaps or duplications in care and to simplify life for the family. Mechanism: a care coordinator (nurse, social worker, or primary pediatrician) keeps track of appointments, results, and plans from each specialist, and helps ensure everyone shares key information. This reduces medical errors, unnecessary tests, and family stress. National Organization for Rare Disorders+1
(More therapies such as dental care, respiratory physiotherapy, and orthotic support are often added based on the child’s specific problems.) NCBI+1
Drug treatments
Important: There is no drug that “fixes” the extra chromosome 22 in Schmid-Fraccaro syndrome. Medicines are used to treat complications such as heart failure, high blood pressure, infections, reflux, or anemia. Doses are highly individualized, especially in infants and children, and must always be prescribed by experienced pediatric specialists. NCBI+1
Below are examples of drug groups often used for related problems, with evidence based on FDA-approved labeling mainly for heart, kidney, or other relevant conditions. They are not a full or mandatory list for every person with CES.
1. Furosemide (loop diuretic – “water tablet”)
Furosemide is a strong diuretic used to remove excess fluid in heart failure or kidney-related edema. Purpose: in a child with heart defect or kidney malformation, it can reduce lung congestion, swelling, and breathlessness. Mechanism: it blocks sodium and chloride reabsorption in the loop of Henle in the kidney, causing increased urine output and loss of salt and water. Dose and timing (usually once or several times per day) are adjusted to weight and kidney function. Side effects include dehydration, low blood pressure, low potassium, and hearing effects at high doses, so careful monitoring is needed. FDA Access Data+2FDA Access Data+2
2. Enalapril (ACE inhibitor)
Enalapril is an ACE inhibitor used in heart failure and hypertension. Purpose: in a child with CES and significant heart defect or ventricular dysfunction, it may lower blood pressure, reduce heart workload, and improve symptoms. Mechanism: after conversion to enalaprilat, it blocks the angiotensin-converting enzyme, reducing angiotensin II and aldosterone. This relaxes blood vessels and reduces salt and water retention. Dosing in pediatrics is based on body weight and started very low, then increased carefully. Side effects can include cough, kidney function changes, high potassium, and rarely angioedema, so regular blood tests and monitoring are essential. FDA Access Data+1
3. Metoprolol (beta-blocker)
Metoprolol is a beta-1 selective blocker used for heart failure, arrhythmias, and high blood pressure in older children and adults. Purpose: to slow the heart rate, improve filling, and reduce arrhythmias in selected patients after congenital heart surgery or with cardiomyopathy. Mechanism: it blocks beta-1 receptors in the heart, reducing the effect of adrenaline and noradrenaline, which lowers heart rate and contractility. Dosing is titrated gradually based on heart rate, blood pressure, and symptoms. Side effects can include tiredness, dizziness, low heart rate, and worsening asthma in sensitive patients. FDA Access Data+2FDA Access Data+2
4. Spironolactone (aldosterone antagonist)
Spironolactone is a potassium-sparing diuretic and aldosterone blocker used in heart failure and some kidney problems. Purpose: to control fluid retention and protect the heart in combination with other drugs. Mechanism: it competes with aldosterone in the distal tubule, promoting sodium and water excretion while conserving potassium. Dose is based on weight and kidney function. Side effects can include high potassium, nausea, breast tenderness, and, rarely, liver or endocrine effects; therefore, potassium and kidney tests are monitored regularly. FDA Access Data+2FDA Access Data+2
5. Antibiotics for recurrent infections
Children with CES may face repeated ear, urinary, or lung infections due to structural anomalies. Common antibiotics such as amoxicillin-clavulanate, cephalosporins, or others may be prescribed based on culture results. Purpose: to clear bacterial infections quickly, prevent kidney or lung damage, and reduce hospital stays. Mechanism: antibiotics interfere with bacterial cell wall synthesis, protein production, or DNA replication, depending on class. Dosing is weight-based and time-limited. Side effects vary but can include diarrhea, allergy, and, rarely, more serious reactions, so any rash, breathing difficulty, or severe diarrhea needs urgent care. National Organization for Rare Disorders+1
6. Proton pump inhibitors (e.g., omeprazole)
Reflux is common after abdominal surgery or in children with chronic illness. Purpose: PPIs such as omeprazole reduce stomach acid, helping heal esophagitis and reduce pain and vomiting. Mechanism: PPIs block the proton pump in stomach parietal cells, greatly lowering acid secretion. They are usually given once daily, timed before a meal. Side effects can include headache, abdominal pain, and, with long-term use, possible increased risk of certain infections and nutrient malabsorption, so treatment is regularly reviewed. NCBI+1
7. Iron supplements (for iron-deficiency anemia)
Chronic illness, surgery, and poor intake can cause iron-deficiency anemia. Purpose: iron supplements restore hemoglobin, improving energy and growth. Mechanism: iron is required to make hemoglobin, which carries oxygen in red blood cells. Oral iron is given in small doses, often with vitamin C to improve absorption. Side effects include stomach upset, dark stools, and constipation; doses are adjusted if these occur. Intravenous iron is reserved for selected patients under hospital supervision. NCBI+1
8. Erythropoiesis-stimulating agents (in selected kidney disease cases)
If CES is complicated by chronic kidney disease and anemia, erythropoiesis-stimulating agents (ESAs) like erythropoietin may be used under specialist care. Purpose: to stimulate red blood cell production in bone marrow when the kidneys do not make enough natural erythropoietin. Mechanism: ESAs bind to erythropoietin receptors on bone marrow cells, promoting their maturation. Doses, route, and intervals are carefully individualized and adjusted based on hemoglobin levels to avoid too high or too low counts. Side effects can include high blood pressure and clot risk if hemoglobin rises too quickly. NCBI+1
9. Vitamin D and calcium (when deficient)
Children with chronic disease or limited sunlight may develop vitamin D deficiency, affecting bones. Purpose: vitamin D and calcium supplements support bone mineralization and growth, especially in children with limited mobility. Mechanism: vitamin D increases calcium absorption from the gut; calcium provides the building blocks for bones. Doses depend on age, lab levels, and diet, and must avoid overdose. Side effects of excess include nausea, confusion, and high blood calcium, so blood levels are checked periodically. NCBI+1
10. Pain control medicines (e.g., paracetamol / acetaminophen)
Pain from surgeries or procedures should be well managed. Purpose: to reduce pain and stress, which can otherwise slow recovery and feeding. Mechanism: simple analgesics such as paracetamol act in the central nervous system to reduce pain perception and fever. Dosing is based on weight and given at regular intervals, not more than the maximum daily dose. Overdose can damage the liver; therefore, all other paracetamol-containing medicines must be counted together. Stronger pain medicines are used only under close hospital supervision. NCBI+1
(In practice, many other medicines may be used depending on the child’s specific heart, kidney, lung, or gastrointestinal issues. All must be prescribed and monitored by specialists.) NCBI+1
Dietary molecular supplements (supportive, not disease-curing)
Again, these supplements do not change the chromosome problem, but may support general health when used correctly in children with chronic disease. They should only be used after discussion with the care team.
1. Omega-3 fatty acids (fish oil)
Omega-3 fatty acids (EPA/DHA) are healthy fats found in fish oil. Functional role: they support heart health, reduce inflammation, and may help brain development. Mechanism: omega-3s are incorporated into cell membranes, where they influence inflammatory signaling pathways and may improve vascular function. Dose depends on age, weight, and diet; purified pediatric formulations avoid excess vitamin A/D. Possible side effects include stomach upset and a mild blood-thinning effect at high doses, so they must be used cautiously, especially around surgeries or with anticoagulant drugs. NCBI+1
2. Vitamin D3
Vitamin D3 (cholecalciferol) supports bone health, immune function, and muscle strength. Mechanism: it increases intestinal absorption of calcium and phosphate and affects many immune and muscle cells. In CES, where growth may be slow and mobility limited, keeping vitamin D normal is important. Typical dosing follows pediatric guidelines and is adjusted based on blood levels; long-term high doses are avoided. Side effects of excessive vitamin D include high calcium, vomiting, and kidney problems, so monitoring is essential. NCBI+1
3. Calcium supplements
Calcium supplements are sometimes added when intake from diet is low or when the doctor wants stronger bones, especially in children with reduced mobility or on certain medicines. Functional role: supports bone density, teeth, and muscle contraction. Mechanism: calcium provides the mineral component of bone and is critical for nerve and muscle signaling. Dose is based on age and diet; giving too much can cause constipation, kidney stones, or interference with absorption of other drugs, so timing and amount must be checked with the healthcare team. NCBI+1
4. Multivitamin with trace elements
A pediatric multivitamin with trace elements provides small amounts of many vitamins (A, B, C, D, E) and minerals (zinc, selenium, copper). Functional role: to fill gaps in nutrition when appetite is poor or when special diets are used after surgery. Mechanism: these micronutrients act as co-factors in hundreds of enzyme reactions in cells, supporting immunity, wound healing, energy production, and growth. Doses are usually once daily in age-appropriate amounts; megadoses are not recommended. Side effects are usually minimal at recommended doses but can occur if multiple supplements are combined. NCBI+1
5. Probiotics (selected strains)
Probiotics are live beneficial bacteria given in foods or supplements. Functional role: they may support gut health, reduce some types of diarrhea, and modulate immunity. Mechanism: probiotics colonize parts of the intestine, compete with harmful bacteria, and produce substances that support the gut barrier. In children with frequent antibiotics or bowel surgery, this may be helpful, but evidence varies by strain and condition. Doses and products should be chosen carefully, particularly in severely immunocompromised patients, where probiotics may not be safe. NCBI+1
6. Zinc supplements (when deficient)
Zinc is a trace element essential for immune function, wound healing, and growth. Mechanism: zinc is part of many enzymes and transcription factors inside cells. In a child with poor intake, chronic diarrhea, or frequent infections, correcting zinc deficiency can improve appetite, immune responses, and skin health. Dose is based on age and lab levels; too much zinc can cause nausea and interfere with copper absorption, so medical guidance is important. NCBI+1
7. Selenium (only if low)
Selenium is another trace element important in antioxidant enzymes and thyroid hormone conversion. Mechanism: it is part of glutathione peroxidase and other antioxidant systems that protect cells from oxidative stress. In rare cases of deficiency or particular cardiac or thyroid conditions, supplementation may be considered. Dose is tiny and carefully controlled; excessive selenium can be toxic, causing hair loss, nail changes, and nerve problems, so it should never be taken without clear indication. NCBI+1
8. L-carnitine (selected cases)
L-carnitine helps transport long-chain fatty acids into mitochondria for energy production. Functional role: in some children with muscle weakness, poor feeding, or special nutritional needs, it may support energy metabolism. Mechanism: by improving fatty acid transport, it may enhance energy supply to muscles and heart. Dose and duration are decided by specialists based on lab tests. Side effects are usually mild (fishy body odor, gastrointestinal upset), but it should not be used routinely without medical indication. NCBI+1
9. Specialized high-calorie formulas
For infants or young children unable to take enough calories, specially designed formulas with higher calorie density and balanced nutrients are used. Functional role: to support catch-up growth without overloading the gut or kidneys. Mechanism: these formulas provide more calories per milliliter and may include medium-chain triglycerides, extra protein, and tailored mineral content. Dietitians fine-tune the composition and volume based on weight gain and blood tests. NCBI+1
10. Fiber supplements (e.g., psyllium, in older children)
When constipation persists despite diet, some children may benefit from soluble fiber supplements. Functional role: fiber adds bulk and softness to stool and helps regular bowel movements, especially important after anal or bowel surgery. Mechanism: soluble fiber absorbs water in the intestine, forming a gel-like mass that stimulates peristalsis. Adequate fluid intake is required to avoid blockage. These products are usually used only in older children who can drink enough water; dosing is started low and increased gradually. Orpha+1
Immunity-boosting and regenerative / stem-cell-related drugs (reality and limits)
Currently, there are no specific “stem cell drugs” or immune boosters approved to cure Schmid-Fraccaro syndrome. However, some treatments aim to support the immune system or repair damaged tissues in associated conditions, always under specialist care. NCBI+1
Because of safety rules, I will describe these approaches generally, without suggesting unapproved therapies or off-label use.
1. Routine vaccines and catch-up immunization
The most effective and proven “immune support” is full, on-time vaccination according to national schedules. Mechanism: vaccines train the immune system to recognize and fight specific germs safely, reducing the risk of severe infections that would be dangerous for a medically fragile child. Extra vaccines (such as pneumococcal, influenza) may be advised. Timing and any adjustments are decided by the pediatrician and infectious-disease specialists. NCBI+1
2. Immunoglobulin therapy (in selected immune defects)
If testing shows true antibody deficiency, some children may receive intravenous or subcutaneous immunoglobulin (IVIG/SCIG). Mechanism: this therapy provides ready-made antibodies from healthy donors, helping the child fight infections. Dosing and schedule are individualized, often every 3–4 weeks. Side effects can include headache, fever, and rarely serious reactions, so it is given under close supervision. This is only used when clear evidence of immune deficiency is present. NCBI+1
3. Hematopoietic stem cell transplant (for separate, serious blood diseases)
Very rarely, if a person with CES also has a severe, unrelated bone marrow or immune disorder, doctors may consider hematopoietic stem cell transplantation. Mechanism: high-dose chemotherapy (and sometimes radiation) destroys diseased marrow, and stem cells from a donor or the patient are infused to rebuild the blood-forming system. This is a major, high-risk procedure done only in specialized centers, with strict criteria and no guarantee of success. It is not a standard treatment for CES itself, but sometimes relevant if a separate condition co-exists. NCBI+1
(Other so-called “stem-cell” or “immune booster” treatments marketed on the internet, especially outside regulated hospitals, are often unproven or unsafe and should be avoided.) NCBI+1
Surgeries (procedures and why they are done)
Surgical treatment is central in many children with Schmid-Fraccaro syndrome because several defects are structural.
1. Anorectal repair for anal atresia
Anal atresia (absence or malformation of the anal opening) often requires urgent surgery soon after birth. Procedure: surgeons create a proper anal opening and connect it to the rectum; sometimes a temporary colostomy (opening of the bowel on the abdomen) is made first, followed by definitive repair later. Reason: to allow passage of stool, prevent life-threatening bowel obstruction, and reduce risk of infection. Long-term, this improves nutrition, growth, and quality of life. Orpha+1
2. Cardiac surgery for congenital heart defects
Common heart lesions in CES include atrial or ventricular septal defects and more complex malformations. Procedure: depending on the defect, surgeons may patch holes, repair valves, or reroute blood flow using cardiopulmonary bypass. Reason: to improve blood oxygenation, reduce heart failure symptoms, and prevent long-term damage to lungs and heart. Timing depends on the severity of the defect and the child’s overall condition. NCBI+1
3. Renal and urinary tract surgery
Kidney or urinary tract malformations (e.g., obstructive uropathy, reflux) may need surgical correction. Procedure: may include relief of obstruction, reimplantation of ureters, or, rarely, partial removal of severely damaged kidney tissue. Reason: to protect kidney function, reduce infections, and preserve long-term renal health. Decisions are based on imaging, kidney function tests, and infection history. NCBI+1
4. Ear reconstruction and preauricular tag removal
Preauricular tags and misshapen outer ears are common in CES. Procedure: small skin tags may be removed under local or general anaesthesia; larger reconstructive surgeries are done later in childhood. Reason: primarily cosmetic and psychosocial, helping the child feel more comfortable socially and improving the fit of glasses or hearing aids. Hearing function is guided more by internal ear structures, but outer ear shape can also help sound direction. JAMA Network+1
5. Ophthalmic surgery for eye defects
Some eye problems, such as severe coloboma complications, cataracts, or strabismus, may need eye surgery. Procedure: may include cataract removal with lens implantation, strabismus surgery to align eyes, or other corrective operations. Reason: to protect vision where possible, improve eye alignment, and reduce cosmetic differences. Even when structural defects limit full vision, surgery plus low-vision aids can improve function. All About Vision+1
Prevention and risk reduction
While CES itself cannot be prevented once the chromosome change occurs, several complications can be reduced:
Early diagnosis and referral – early recognition of anal atresia, heart defects, and coloboma allows timely lifesaving surgery and monitoring. NCBI+1
Regular multi-system follow-up – scheduled checks of heart, kidneys, hearing, and vision prevent silent damage. NCBI+1
Full vaccination – reduces serious infections in a child who may already be fragile. NCBI+1
Prompt treatment of infections – early antibiotics and follow-up for urinary or lung infections help protect kidneys and lungs. National Organization for Rare Disorders+1
Safe surgery and peri-operative care – using experienced centers lowers complications from major operations. NCBI+1
Balanced nutrition and growth monitoring – prevents malnutrition and supports immune function and wound healing. NCBI+1
Avoiding nephrotoxic drugs when possible – protects vulnerable kidneys. NCBI+1
Appropriate physical activity and physiotherapy – reduce contractures, osteoporosis, and deconditioning. NCBI+1
Genetic counseling for future pregnancies – helps families understand recurrence risk and available prenatal testing. Wikipedia+1
Psychosocial and educational support – reduces behavioral and mental health complications and improves life participation. National Organization for Rare Disorders+1
When to see a doctor urgently
Families should seek immediate medical care if a child or adult with Schmid-Fraccaro syndrome has:
Trouble breathing, blue lips, or fast breathing. NCBI+1
Poor feeding, repeated vomiting, or a swollen abdomen. Orpha+1
Very low urine output, dark or bloody urine, or swelling of feet/face. NCBI+1
High fever, lethargy, or unusual irritability. National Organization for Rare Disorders
New seizures or episodes of unresponsiveness. NCBI+1
Sudden vision changes, eye redness, or severe eye pain. All About Vision+1
Rapidly worsening shortness of breath, chest pain, or fainting. NCBI+1
Routine follow-up visits are also important even when the child seems well.
What to eat and what to avoid
Diet must always be individualized for heart and kidney status, but general ideas include:
Eat: Balanced meals with fruits, vegetables, whole grains, and adequate protein (eggs, beans, lean meats or fish). Supports growth and immune function. NCBI+1
Eat: Foods rich in healthy fats (fish, olive oil, nuts in older children) for energy and brain development, if not contraindicated. NCBI+1
Eat: Calcium-rich foods like dairy or fortified alternatives when allowed, to protect bones. NCBI+1
Eat: Fiber-containing foods (fruits, vegetables, whole grains) to help prevent constipation after anal surgery. Orpha+1
Avoid: Very salty foods (chips, instant noodles, processed meats) in children with heart or kidney problems, as salt worsens swelling and blood pressure. NCBI+1
Avoid: Excess sugary drinks and sweets, which add calories without nutrition and promote weight and dental problems. NCBI+1
Avoid: Unpasteurized milk, raw eggs, or unsafe street foods, especially if the child is immunocompromised. NCBI+1
Avoid: Herbal or “immune booster” supplements bought without medical advice; they may interact with medicines or harm the liver or kidneys. NCBI+1
Adjust: Fluid intake as advised by nephrology or cardiology; some children need restriction, others need extra fluids. NCBI+1
Adjust: Texture (puree, soft, thickened liquids) according to feeding and swallowing assessments to reduce choking and aspiration. NCBI+1
Frequently asked questions
1. Is Schmid-Fraccaro (cat eye) syndrome curable?
No. The syndrome is caused by extra genetic material on chromosome 22, present in every cell from conception. Current medicine cannot remove this extra chromosome. Treatment focuses on correcting or supporting each affected organ (eye, anus, heart, kidney, etc.) and on maximizing development and quality of life. Many people with milder forms and good medical care can live into adulthood. Wikipedia+1
2. How is Schmid-Fraccaro syndrome diagnosed?
Diagnosis is usually suspected when a newborn has the classic triad: iris coloboma, anal atresia, and ear tags, plus possible heart or kidney defects. Chromosome testing (karyotype, FISH, or microarray) then shows a small extra chromosome derived from chromosome 22. Geneticists interpret these results and confirm CES/Schmid-Fraccaro syndrome. NCBI+2Rare Chromo+2
3. Does every child with this syndrome have the “cat’s eye” pupil?
No. The name comes from the classic iris coloboma that makes the pupil vertical like a cat’s eye, but more than half of reported patients do not show this eye feature. Other findings like anal atresia, ear tags, and heart defects may still be present. Wikipedia+1
4. Can intelligence be normal in cat eye syndrome?
Yes. Many individuals with CES have normal or near-normal intellectual development, although some have learning difficulties or mild intellectual disability. Early interventions, therapy, and appropriate schooling can improve outcomes. NCBI+2Global Genes+2
5. Is the condition always inherited from a parent?
Not always. In many cases, the extra marker chromosome arises de novo (newly) in the child. In some families, one parent carries the marker chromosome (possibly in mosaic form) and may or may not show symptoms. Genetic counseling and parental chromosome studies are important to determine recurrence risk. Wikipedia+1
6. Can this syndrome be detected before birth?
Sometimes. If prenatal ultrasound shows anomalies like anal atresia, heart defects, or complex malformations, doctors may suggest genetic testing (chorionic villus sampling or amniocentesis). Chromosome analysis or microarray may reveal the extra chromosome 22. However, mild or mosaic cases can be hard to detect, and normal prenatal tests cannot guarantee a child will be completely healthy. Wikipedia+1
7. What is the life expectancy?
Life expectancy varies widely and depends mainly on the severity of organ defects and quality of medical care. Severe heart or kidney malformations or serious neonatal complications may shorten life. Children with milder features, successful surgeries, and good follow-up can live into adulthood. NCBI+2Global Genes+2
8. Will my child always need medicines?
Some children only need surgery and supportive therapies and no long-term medicines. Others, especially with heart or kidney involvement, may need chronic medications such as diuretics, ACE inhibitors, or blood pressure tablets, with doses changing as they grow. All medicines should be reviewed regularly by specialists to avoid unnecessary long-term use. NCBI+1
9. Will my child be able to attend regular school?
Many children with CES do attend regular school, sometimes with supports like special seating, vision or hearing aids, or extra learning help. Some may need special education settings. The right placement depends on the individual child’s abilities, behavior, and health. Close collaboration between family, teachers, and medical team is important. Rare Chromo+1
10. Is physical activity safe?
In most children, some physical activity is encouraged, but the type and intensity must match heart and lung functions. Cardiologists and physiotherapists can prescribe safe exercise, from simple play to structured programs. Strenuous competitive sports may be restricted in children with serious heart disease. NCBI+1
11. Are there special precautions for anesthesia and surgery?
Yes. Children with CES may have heart, airway, or kidney problems that increase anesthesia risks. Surgeons and anesthesiologists experienced with complex syndromes should review all heart and kidney tests before surgery and plan careful monitoring during and after the operation. NCBI+2SpringerLink+2
12. Should brothers and sisters be tested?
This depends on the family’s specific genetic findings. If the extra chromosome 22 is shown to be inherited from a parent, siblings may be offered testing, especially if subtle features are present. In purely de novo cases, routine testing of siblings may not be needed. Genetic counseling will discuss pros and cons in detail. Wikipedia+1
13. Are “stem cell cures” offered abroad safe for this condition?
At present, there is no approved stem cell cure for Schmid-Fraccaro syndrome. Many expensive treatments offered abroad lack good scientific proof and may be unsafe. Families should be very cautious and discuss any such offers with their local specialists or a reputable genetics center before making decisions. NCBI+1
14. How can parents cope emotionally?
Caring for a child with a rare syndrome is demanding. Many parents benefit from psychological counseling, support groups, and connecting with rare-disease organizations. Sharing experiences, asking questions, and learning about the condition often reduces fear and helps families feel less alone. National Organization for Rare Disorders+1
15. Where can we find reliable information and support?
Reliable sources include NORD, Orphanet, national genetics centers, and patient organizations for cat eye syndrome. These sites provide medically reviewed information, practical advice, and contacts for support groups. Your child’s genetics clinic can also recommend trusted local resources. National Organization for Rare Disorders+2Orpha+2
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.
