Schachenmann’s syndrome is another name for Cat Eye Syndrome (CES), a very rare genetic condition that affects many parts of the body, especially the eyes, anus, ears, heart, kidneys and growth. It was first described in 1965 by Gertrud Schachenmann and colleagues, who reported patients with a small extra chromosome and the combination of iris coloboma and anal atresia. Chromosome Disorder Outreach, Inc+1
Schachenmann’s syndrome is another name for Cat eye syndrome (CES) – a rare chromosomal disorder caused by an extra piece of chromosome 22. This extra chromosome changes how many organs form, especially the eyes, ears, heart, kidneys and anal region. There is no cure and no drug that fixes the chromosome itself. Treatment focuses on each problem (for example, surgery for anal atresia, heart surgery, hearing aids, eye follow-up, bowel training, etc.). NCBI+2National Organization for Rare Disorders+2
Because this is a complex, multi-system condition, all care must be planned individually by a multidisciplinary team (pediatrics, cardiology, nephrology, ophthalmology, ENT, surgery, rehab, genetics). Modern reviews stress early a
Today, medical sources list “Schachenmann’s syndrome” as a synonym of Cat Eye Syndrome / Schmid-Fraccaro syndrome, caused by extra genetic material from chromosome 22. Academie de Médecine+4GARD Information Center+4NCBI+4
Schachenmann’s syndrome (Cat Eye Syndrome) is a congenital chromosomal disorder. This means the problem is present from birth and comes from a change in the chromosomes, which are the packages of DNA inside our cells. In Cat Eye Syndrome, there is usually a small extra chromosome made of parts of chromosome 22. This gives the child extra copies (partial “tetrasomy”) of some genes in the 22q11 region. News-Medical+3NCBI+3Wikipedia+3
This extra genetic material affects how the baby’s body forms in the womb. The “classic triad” doctors look for is:
Iris coloboma – a keyhole-shaped defect in the colored part of the eye, making the pupil look like a cat’s eye.
Anal malformation, often anal atresia (the anal opening is missing or blocked).
Preauricular pits or skin tags, which are small holes or tags of skin just in front of the ears. Anatolian Journal of Medical Research+3NCBI+3SpringerLink+3
However, not every patient has all three signs. Some people have only mild external changes, while others have serious heart, kidney, or brain defects and developmental delay. The condition is rare, with an estimated frequency of around 1 in 50,000–100,000 live births. NCBI+1
Other names for Schachenmann’s syndrome
Medical texts and rare-disease registries list several other names for this same condition: NCBI+2GARD Information Center+2
Cat Eye Syndrome (CES)
Schmid–Fraccaro syndrome
Cat-eye syndrome (type I)
Chromosome 22 partial tetrasomy
inv dup(22)(q11) syndrome (inverted duplication of part of the long arm of chromosome 22)
22q11 partial tetrasomy syndrome
In some European references, it is called “syndrome de Schachenmann” or “Katzenaugensyndrom” (“cat-eye syndrome” in German). DNB Portal+1
Types of Schachenmann’s syndrome
Doctors do not always divide Cat Eye Syndrome into strict “types”, but clinically and genetically we can think of several forms. These are not official universal categories, but they help explain the variety of patients described in the literature. NCBI+2SpringerLink+2
Classic (typical) Cat Eye Syndrome
In classic cases, the child has:
The typical small extra marker chromosome derived from chromosome 22
The classic triad: iris coloboma, anal malformation, preauricular pits/tags
Often other anomalies, such as heart or kidney defects
This form is easy for experienced clinicians to recognize.
Incomplete or atypical Cat Eye Syndrome
Some patients have the same chromosomal change but only some features of the triad. For example, they may have ear tags and a heart defect but no visible iris coloboma, or have eye and kidney problems but a normal anus. These cases show that the syndrome has variable expression, meaning the same genetic change can lead to very different outward appearances. NCBI+2Anatolian Journal of Medical Research+2
Mosaic Cat Eye Syndrome
In mosaic cases, not all cells carry the extra chromosome. Some cells are normal, and some have the Cat Eye Syndrome marker. This mosaicism can lead to milder symptoms or very uneven involvement of different organs. ResearchGate+1
Severe multisystem Cat Eye Syndrome
A subset of patients have severe heart defects, major kidney malformations, brain anomalies, and significant developmental disability. These children may need intensive care, multiple surgeries, and long-term support. News-Medical+3NCBI+3SpringerLink+3
Mild or almost silent Cat Eye Syndrome
Some individuals are discovered incidentally, for example during genetic testing for another reason. They may have only very subtle features, such as minor ear tags or mild learning difficulties, and they may reach adulthood before diagnosis. NCBI+1
Causes of Schachenmann’s syndrome
Scientifically, there is one main proven cause of Schachenmann’s syndrome: an extra small chromosome derived from chromosome 22 (a small supernumerary marker chromosome, or sSMC) that results in partial tetrasomy 22q11. News-Medical+4SpringerLink+4Wikipedia+4
The 20 “causes” below break this central mechanism into mechanical, genetic and risk-factor details. Only some of them are clearly proven in Cat Eye Syndrome; others are logical extensions from what is known about chromosomal disorders in general. I will say this clearly when evidence is limited.
Extra small marker chromosome from chromosome 22
The core cause is a small extra chromosome, usually made of the short arm and a small part of the long arm of chromosome 22 (22pter-22q11). This gives four copies (tetrasomy) of that region instead of the normal two, upsetting normal gene dosage and disturbing organ development. Wikipedia+2SpringerLink+2
Inverted duplication of 22q11
In many patients, the extra marker chromosome is an inverted duplication of 22q11, written as inv dup(22)(q11). The genes in this duplicated segment are present twice on the same small chromosome, further increasing the dosage imbalance. Wikipedia+2SpringerLink+2
Partial tetrasomy 22q11 dosage effect
Because the same genes are present in four copies (two on normal chromosome 22 and two on the marker), the body experiences a dosage effect. Genes that control eye, anal canal, heart, ear, and kidney development are overexpressed, which disrupts normal morphogenesis and creates the characteristic triad and other malformations. NCBI+2SpringerLink+2
De novo chromosomal error during meiosis
In most cases, the extra chromosome appears for the first time in the child (de novo), and is not inherited from a parent. The error usually occurs during meiosis, the special cell division that makes egg and sperm cells, when chromosomes fail to separate correctly or break and rejoin in an abnormal way. NCBI+2Chromosome Disorder Outreach, Inc+2
Early embryonic mitotic error (mosaicism)
In mosaic cases, the original egg and sperm may be normal, but a chromosome error happens after fertilization during early embryonic mitosis. Some cells gain the extra marker chromosome, while others do not, leading to a mix of normal and abnormal cell lines in the body. ResearchGate+1
Unbalanced translocation involving chromosome 22
In a minority of families, one parent carries a balanced translocation involving chromosome 22, meaning their chromosomes are rearranged but no genetic material is lost or gained. If this parent passes on an unbalanced version of this translocation to the child, the result can mimic the usual Cat Eye Syndrome marker with extra 22q11 material. SpringerLink+1
Germline mosaicism in a parent
Some parents may have normal blood chromosomes but mosaicism in their germ cells (egg or sperm). This means only a small proportion of their reproductive cells carry the extra chromosome. This can lead to recurrence of Cat Eye Syndrome in siblings, even when parental blood karyotypes are normal. Evidence is limited, but germline mosaicism is a known mechanism in many chromosomal disorders. NCBI+1
General chromosome-breakage events
Chromosomes can break and rejoin in the wrong way because of random events during cell division. In Cat Eye Syndrome, such a breakage event in chromosome 22 followed by faulty repair can create the extra marker chromosome. These events are usually sporadic and unpredictable, without a clear external trigger in most families. SpringerLink+2Chromosome Disorder Outreach, Inc+2
Possible influence of advanced maternal or paternal age (uncertain)
In some other chromosomal conditions, advanced parental age is a modest risk factor, likely because older eggs or sperm undergo more division cycles and accumulate errors. Evidence for a specific age-effect in Cat Eye Syndrome is not strong, but clinicians often consider this a possible contributing factor, not a proven cause. News-Medical
Family history of structural rearrangements of chromosome 22
Very rarely, Cat Eye Syndrome occurs in several family members when a structural rearrangement involving chromosome 22 runs in the family. In such families, the risk to future children is higher, because the same abnormal segregation of chromosomes can happen again. NCBI+2SpringerLink+2
Dosage imbalance of genes controlling eye development
Genes responsible for eye development, especially those involved in closure of the optic fissure, are thought to lie within the duplicated chromosome 22 region. When these genes are over-expressed, the fissure may not close properly, leading to iris coloboma and the distinctive “cat-eye” appearance. NCBI+2SpringerLink+2
Dosage imbalance of genes forming the anorectal region
Similarly, genes that help shape the hindgut and anorectal region are affected by the extra chromosome. Abnormal gene dosage may disturb the partition between the rectum and urogenital structures, resulting in anal atresia or other anorectal malformations. News-Medical+3NCBI+3SpringerLink+3
Neural crest cell migration defects
Parts of the skull, ears, and heart arise from neural crest cells, a special cell population that migrates during embryonic development. Extra copies of 22q11 genes can disrupt neural crest migration and differentiation, leading to ear tags, ear pits, facial differences, and heart defects. NCBI+1
Cardiac development gene effects
Many children with Cat Eye Syndrome have congenital heart defects, such as atrial septal defect, ventricular septal defect, or total anomalous pulmonary venous return. This suggests that genes on 22q11 influence cardiac septation and vascular connections, and that dosage imbalance contributes to these heart problems. News-Medical+3NCBI+3SpringerLink+3
Kidney and urinary tract development gene effects
The kidneys and urinary tract also often show malformations (e.g., duplex kidneys, hydronephrosis, renal dysplasia). This indicates that some genes in the duplicated region are involved in nephrogenesis and ureter development, and their over-activity leads to renal anomalies. NCBI+2SpringerLink+2
Disruption of brain development
Some patients have brain structural anomalies, seizures, or intellectual disability. While the exact genes are not fully known, the extra chromosome 22 material likely affects neuronal migration and synaptic development, causing abnormal wiring of the brain. News-Medical+3NCBI+3ResearchGate+3
Epigenetic and modifying-gene effects
The impact of the extra chromosome can be modified by epigenetic changes (how DNA is chemically “marked”) and by other genes in the genome. Two people with the same marker chromosome can have different severity because of these background genetic and epigenetic factors. This helps explain the wide variability in symptoms. NCBI+2SpringerLink+2
General environmental factors (very uncertain in CES)
For most families, no specific environmental cause is found. However, general factors known to increase chromosomal breakage, such as high-dose ionizing radiation or certain toxins, may theoretically contribute to errors during gamete formation. For Cat Eye Syndrome specifically, this remains speculative and is not considered a major proven cause. SpringerLink+2Chromosome Disorder Outreach, Inc+2
Chance (stochastic) events
In many cases, the extra chromosome appears to result from pure chance, with no identifiable risk factor. Random errors during chromosome replication and separation are a normal part of biology, and occasionally they lead to rare conditions like Cat Eye Syndrome. NCBI+2News-Medical+2
Unknown mechanisms
Finally, some patients have clinical features strongly suggesting Cat Eye Syndrome, but the usual marker chromosome is difficult to detect, or the exact structure is unusual. In these rare situations, other unknown mechanisms involving chromosome 22 or nearby regions may be involved. Research is ongoing, and our understanding is incomplete. NCBI+2SpringerLink+2
Symptoms and signs of Schachenmann’s syndrome
The symptoms of Schachenmann’s syndrome vary a lot from person to person. Some have only a few mild signs, while others have serious multi-organ disease. Not all patients have every symptom listed here. News-Medical+3NCBI+3SpringerLink+3
Iris coloboma (“cat-eye” appearance)
The most famous feature is iris coloboma. Part of the iris tissue is missing, so the pupil looks like a vertical oval or keyhole, similar to a cat’s eye. Vision may be normal or mildly affected, depending on how deep the defect is and whether the retina is involved.
Anal atresia or other anorectal malformations
Many babies have anal atresia, where the anal opening is absent or does not connect properly to the rectum. Some have narrow anus or fistulas connecting the rectum to the urinary or genital tract. These problems usually present soon after birth with failure to pass meconium or abdominal swelling and require surgery.
Preauricular pits and skin tags
Small pits, dimples, or tags of skin in front of the ears are common. They are usually harmless but are an important visual clue that suggests Cat Eye Syndrome when combined with other signs.
Ear anomalies and hearing loss
The external ears may be unusually shaped, low-set, or rotated. Some children have conductive or sensorineural hearing loss, which may affect speech and learning if not detected early and treated with hearing aids or other support.
Facial features
Some patients have mild but recognizable facial differences, such as widely spaced eyes (hypertelorism), downward slanting eye openings, micrognathia (small lower jaw), or cleft palate. These features are not dangerous by themselves but help doctors suspect the diagnosis.
Congenital heart defects
Heart defects are frequent and can range from simple holes between chambers (atrial or ventricular septal defects) to serious problems such as total anomalous pulmonary venous return. These defects can cause poor feeding, bluish color (cyanosis), rapid breathing, or heart failure in infancy, and they often require cardiology care and sometimes surgery. News-Medical+3NCBI+3SpringerLink+3
Kidney and urinary tract anomalies
The kidneys may be missing, malformed, duplicated, or poorly drained. Children can have hydronephrosis (swelling of the kidneys), urinary tract infections, or impaired kidney function. Long-term follow-up with a nephrologist is often needed. NCBI+2SpringerLink+2
Growth delay
Some children with Schachenmann’s syndrome are small for gestational age at birth, and some continue to have short stature or poor weight gain. Growth problems may result from heart disease, feeding difficulties, or intrinsic growth regulation issues.
Developmental delay and learning difficulties
There may be mild to moderate developmental delay, including delayed sitting, walking, or talking. School-age children can have learning difficulties, attention problems, or intellectual disability. Early intervention and special education help maximize their potential. NCBI+2ResearchGate+2
Low muscle tone (hypotonia) and motor delay
Babies may feel “floppy” and have poor head control because of low muscle tone. This can delay rolling, sitting, and walking. Physiotherapy and occupational therapy can support motor development.
Seizures
A minority of patients have seizures, sometimes related to structural brain anomalies. Seizures can range from brief staring spells to generalized convulsions and are treated with standard anti-seizure medications after neurologic evaluation. ResearchGate+1
Respiratory problems in the newborn period
Because of heart defects, airway anomalies, or hypotonia, some newborns with Cat Eye Syndrome have respiratory distress, fast breathing, or difficulty maintaining oxygen levels. They may need oxygen, ventilatory support, or surgery for underlying defects.
Gastrointestinal problems
Besides anorectal malformations, some children have intestinal malrotation, feeding difficulties, reflux, or chronic constipation. These problems may require medications, special feeding strategies, or surgery.
Genital and reproductive anomalies
Some patients have undescended testes, hypospadias, or other genital anomalies. These are usually managed by pediatric surgeons or urologists and may affect fertility later in life depending on severity.
Behavioral and psychosocial challenges
Children and adults with Schachenmann’s syndrome may struggle with behavioral issues, attention problems, social communication difficulties, and anxiety related to chronic illness and medical procedures. Support from psychologists, social workers, and family counseling can be very helpful.
Diagnostic tests for Schachenmann’s syndrome
Diagnosis is based on clinical examination plus genetic testing to identify the extra chromosome 22 material. Because the condition can affect many organs, a multisystem evaluation is needed. News-Medical+3NCBI+3SpringerLink+3
Below, each test is described in simple language and labeled by category.
A. Physical examination tests
Comprehensive newborn and pediatric physical examination (Physical exam)
A doctor carefully examines the baby or child from head to toe. They look at the eyes for coloboma, the ears for pits or tags, the mouth and jaw for cleft palate or micrognathia, the chest for heart murmurs, the abdomen for swelling, the anus for malformations, and the limbs for any unusual shapes. This first exam raises the initial suspicion of Schachenmann’s syndrome and guides further tests.
Detailed ophthalmologic examination with slit lamp (Physical exam)
An eye specialist (ophthalmologist) examines the eyes using a slit lamp and ophthalmoscope. They check the iris for coloboma, measure vision, and look at the retina and optic nerve. This helps confirm the “cat-eye” appearance and detects any other eye problems that may affect vision and need treatment.
Perineal and anal examination (Physical exam)
The doctor inspects the perineal region to see whether the anus is present, in the correct position, and open. They may gently insert a soft catheter or thermometer to see if the canal is patent (open). Early detection of anal atresia or fistulas is critical, because these problems require prompt surgical management.
Ear, nose, and throat (ENT) examination (Physical exam)
An ENT specialist looks at the shape and position of the ears, presence of ear pits or tags, nasal structure, and throat. They check for cleft palate, enlarged tonsils, or other airway issues. This exam documents the ear anomalies that are part of the syndrome and identifies factors that could affect breathing or speech.
B. Manual / bedside assessment tests
Growth and anthropometric measurements (Manual test)
Doctors and nurses regularly measure weight, length/height, and head circumference, and plot these values on growth charts. They also measure body proportions. This simple manual test over time shows whether the child has growth delay or head size abnormalities, which can be related to the syndrome or to associated heart and feeding problems.
Neurologic and developmental assessment (Manual test)
Using bedside maneuvers, the clinician tests muscle tone, reflexes, motor milestones, and basic cognitive responses. They may use standardized developmental screening tools appropriate for the child’s age. This manual assessment helps detect hypotonia, motor delay, and developmental delay, and helps plan early intervention.
Basic bedside hearing response check (Manual test)
Before formal audiology testing, simple bedside checks can be done: the examiner makes sounds (clapping, bell, rattle) at different distances and watches whether the baby or child turns toward the sound. While not precise, this gives an early sense of hearing function and whether more detailed electrodiagnostic hearing tests are needed.
C. Laboratory and pathological tests
Complete blood count and basic metabolic panel (Lab test)
A blood test measures red and white blood cells, platelets, and basic electrolytes and kidney function. Although these results are often normal in Cat Eye Syndrome, they can uncover anemia, infection, or kidney impairment due to renal anomalies, guiding further care.
Renal function tests and urinalysis (Lab test)
Blood tests for urea and creatinine and a urine test for protein, blood, or infection help check how well the kidneys work. Since kidney malformations are common, these laboratory tests are important for detecting early kidney dysfunction and planning follow-up. NCBI+2SpringerLink+2
Conventional karyotype with G-banding (Lab / pathological test)
A karyotype is a picture of the chromosomes in a cell. With G-banding staining, the laboratory can often see the small supernumerary marker chromosome characteristic of Cat Eye Syndrome. This test confirms that there is extra structural material from chromosome 22 and is usually the first genetic test ordered. News-Medical+3NCBI+3SpringerLink+3
Fluorescence in situ hybridization (FISH) for chromosome 22 (Lab / pathological test)
FISH uses fluorescent DNA probes that bind to specific chromosome regions. Probes for 22q11 light up the extra marker, showing that it contains duplicated chromosome 22 material. This test is more sensitive than a standard karyotype for small rearrangements and confirms the diagnosis at the molecular level. News-Medical+3NCBI+3SpringerLink+3
Chromosomal microarray (CMA) or array CGH (Lab / pathological test)
Chromosomal microarray detects small gains and losses of DNA (copy-number variants) across the genome. In Schachenmann’s syndrome, CMA shows extra copy number in the 22q11 region, proving partial tetrasomy. It can also reveal additional abnormalities that might influence severity. This is now a standard test for children with congenital anomalies. NCBI+2SpringerLink+2
MLPA or targeted 22q11 duplication panels (Lab / pathological test)
Multiplex ligation-dependent probe amplification (MLPA) or similar targeted assays can measure the number of copies of specific genes in 22q11. These tests can confirm the size and content of the duplicated segment, helping genetic counselors explain recurrence risk and prognosis. NCBI+2SpringerLink+2
D. Electrodiagnostic tests
Electrocardiogram (ECG) (Electrodiagnostic test)
An ECG records the heart’s electrical activity. It can show rhythm problems, chamber enlargement, or strain caused by structural heart defects. In Cat Eye Syndrome, it is often used along with echocardiography to evaluate cardiac function and to monitor before and after surgery.
Brainstem auditory evoked responses (BAER) or otoacoustic emissions (Electrodiagnostic test)
These tests measure the electrical responses of the auditory system to sound. They do not require the child to cooperate and are often used in infants. They help detect hearing loss early so that hearing aids or other interventions can be started quickly, which is important for speech and language development.
Electroencephalogram (EEG) (Electrodiagnostic test)
An EEG records the brain’s electrical activity. In children with seizures or unusual movements, EEG helps confirm epileptic activity, classify the seizure type, and guide medication choices. In Schachenmann’s syndrome, it is used in patients who present with seizures or suspected abnormal brain activity. ResearchGate+1
E. Imaging tests
Echocardiogram (cardiac ultrasound) (Imaging test)
An echocardiogram is an ultrasound of the heart. It shows the heart chambers, valves, and blood flow in real time. In Cat Eye Syndrome, this test detects structural heart defects, such as septal defects or abnormal veins, and is crucial for planning any needed cardiac surgery or monitoring. News-Medical+3NCBI+3SpringerLink+3
Renal and abdominal ultrasound (Imaging test)
Ultrasound of the kidneys and abdomen can identify abnormalities such as missing kidneys, duplicated collecting systems, hydronephrosis, or cysts. Because kidney anomalies are common in Schachenmann’s syndrome, this imaging test is usually part of the initial evaluation and long-term follow-up.
Spine and pelvis imaging for anorectal malformations (X-ray / contrast studies) (Imaging test)
X-ray or contrast studies of the spine, pelvis, and distal bowel help surgeons understand the anatomy of anorectal malformations. They can show the level of obstruction, fistulas, and associated spinal defects, allowing careful planning of corrective surgery.
Brain MRI (Imaging test)
A magnetic resonance imaging (MRI) scan of the brain may be done when there are seizures, major developmental delay, or abnormal neurologic findings. MRI can reveal structural brain anomalies, such as corpus callosum defects or cortical malformations, which can contribute to the clinical picture and help predict prognosis. ResearchGate+2NCBI+2
Non-pharmacological (non-drug) treatments
These interventions do not change the chromosome but can greatly improve function and quality of life.
1. Multidisciplinary care and regular check-ups
Children and adults with Schachenmann’s syndrome need regular reviews with several specialists: pediatrician, cardiologist, nephrologist, ophthalmologist, ENT doctor, surgeon and developmental team. At each visit, doctors check growth, heart function, kidney function, hearing, vision and bowel control. The purpose is early detection of problems such as heart failure, kidney damage or severe constipation so they can be treated before permanent harm occurs. NCBI+2National Organization for Rare Disorders+2
2. Early developmental stimulation programs
Many children have mild learning difficulties or developmental delay. Early-intervention programs provide structured play and learning activities to help speech, movement, coordination and social skills from the first months of life. The purpose is to support the brain at a time when it is most plastic. Regular play-based therapy, responsive parenting, and enriched environments can improve school readiness and independent living later in life. NCBI+1
3. Physical therapy (physiotherapy)
Some patients have low muscle tone, joint problems or spinal anomalies. Physiotherapists work on posture, balance, crawling, walking and endurance using exercises, play, and sometimes hydrotherapy. The goal is to maximize mobility, prevent contractures and reduce pain. Mechanistically, repeated movement and stretching improve muscle strength, joint range and neuromuscular coordination, which can reduce long-term disability and caregiver burden. NCBI+1
4. Occupational therapy
Occupational therapists help the child manage daily tasks like feeding, dressing, writing, and using tools. They may recommend adapted cutlery, special seating, or hand splints. The purpose is to improve independence in activities of daily living. Repetitive task-specific training helps the brain reorganize motor and sensory pathways, allowing better control of fine movements and better participation at school and home. NCBI+1
5. Speech and language therapy
Hearing loss, clefts, or developmental delay may affect speech. Speech therapists assess understanding, expression and swallowing. Therapy includes exercises to strengthen mouth muscles, practice sounds, and build vocabulary through play. For children with severe problems, they may introduce picture boards or electronic communication aids. The purpose is to give the child reliable ways to communicate, reducing frustration and improving social interaction. NCBI+1
6. Bowel management and continence training
Anal atresia or other anorectal malformations are common and usually need surgery. After surgery, children often need structured bowel programs with scheduled toileting, stool-softening diets, enemas or bowel washes to achieve social continence. The goal is to avoid painful constipation, soiling and urinary infections. Regular routines train the colon and pelvic floor, while high-fiber diets and fluids support smoother stool passage. NCBI+2National Organization for Rare Disorders+2
7. Hearing rehabilitation (hearing aids, bone-anchored devices)
Ear anomalies and middle-ear problems can cause conductive or sensorineural hearing loss. Early audiology testing is essential. Hearing aids, bone-anchored hearing devices or cochlear implants may be used depending on the type of loss. The purpose is to provide clear sound input during critical language-learning years. Improved hearing supports speech development, learning and social engagement. NCBI+1
8. Low-vision care and eye protection
Eye problems may include iris coloboma, refractive errors, strabismus or other structural anomalies. Regular eye examinations detect treatable issues. Glasses, patching, magnifiers and proper lighting help maximize remaining vision. Parents are taught to protect the eyes from trauma and UV light. The goal is to preserve vision and prevent amblyopia (lazy eye), so the child can learn and move safely. All About Vision+1
9. Cardiac rehabilitation and monitoring (non-surgical)
When heart defects are present, cardiologists perform regular echocardiograms and ECGs. They guide safe activity levels and monitor for heart failure, arrhythmias or pulmonary hypertension. Advice about salt intake, exercise and signs of decompensation is given to families. The purpose is to detect problems early and support the heart while waiting for, or after, surgery. National Organization for Rare Disorders+1
10. Renal and urinary management (diet and lifestyle)
Kidney and urinary tract malformations may lead to infections, stones or progressive kidney damage. Non-drug management includes tailored fluid intake, bladder-training schedules, avoiding unnecessary NSAIDs, and sometimes special diets in advanced kidney disease. Regular ultrasound and lab tests monitor kidney size and function. Mechanistically, protecting the kidneys reduces long-term risk of hypertension, anemia and chronic kidney disease. National Organization for Rare Disorders+1
11. Nutritional counselling and feeding support
Feeding difficulties, reflux or poor growth may occur. Dietitians and feeding therapists assess calorie needs and safe swallowing. They may suggest thickened feeds, high-calorie formulas, or tube feeding in severe cases. The aim is steady growth without aspiration. Carefully adjusted macronutrients and micronutrients support immune function, muscle development and wound healing, especially before and after surgeries. NCBI+1
12. Psychological support and family counselling
Caring for a child with a rare syndrome is emotionally demanding. Psychologists and counsellors help parents cope with stress, grief and uncertainty. They support siblings and help families communicate with schools and extended relatives. Therapy may use simple cognitive-behavioural techniques and supportive counselling. This reduces anxiety and depression, improves adherence to medical plans and strengthens family resilience. EyeMantra+1
13. Special education and learning support
Some children need adapted schooling, smaller classes, or special education services. Teachers work with psychologists and therapists to create an Individualized Education Plan (IEP). Strategies may include extra time, visual aids, and step-by-step instructions. The aim is to match teaching pace to the child’s abilities, build self-confidence and reduce school failure. NCBI+1
14. Orthopedic management and physiotherapy for skeletal issues
Vertebral anomalies, scoliosis or limb differences may occur. Orthopedic teams monitor spine curvature and bone growth. Braces, physiotherapy and posture training can delay or sometimes avoid major surgery. Strengthening core muscles and maintaining flexibility decreases pain and improves balance and mobility. NCBI+1
15. Dental and oral care
Craniofacial differences and feeding issues can increase dental problems. Early dental visits, fluoride, proper brushing instruction and possible orthodontics are important. Good oral hygiene reduces risk of pain, infection and difficulties with eating and speech. Mechanistically, controlling oral bacteria lowers systemic inflammation and supports nutrition. EyeMantra+1
16. Respiratory physiotherapy (when indicated)
If there are chest wall anomalies or recurrent respiratory infections, respiratory physiotherapists may teach airway clearance techniques and breathing exercises. The purpose is to improve lung expansion, clear secretions and reduce risk of pneumonia. Techniques such as percussion, deep breathing and incentive spirometry can reduce hospitalizations in selected patients. NCBI+1
17. Vaccination planning and infection-prevention routines
Standard childhood vaccinations are crucial to prevent infections that can be more dangerous when heart or kidney defects exist. Doctors may also recommend extra vaccines such as influenza and pneumococcal vaccines. Good hand hygiene, dental hygiene and prompt treatment of urinary infections are emphasized. The mechanism is simple: by preventing infections, we lessen stress on the heart, lungs and kidneys. National Organization for Rare Disorders+1
18. Genetic counselling for family planning
Although many cases occur sporadically, some families may worry about recurrence. Genetic counsellors explain the chromosomal change, recurrence risk and available prenatal testing options (such as chorionic villus sampling or amniocentesis with karyotype). The purpose is informed decision-making in future pregnancies and emotional support for parents. National Organization for Rare Disorders+1
19. Social work and disability support services
Social workers help families obtain disability benefits, equipment funding, transportation support and school inclusion services. They also link families with patient organizations and support groups. These supports can reduce financial burdens and isolation, making it easier to follow complex medical plans over many years. National Organization for Rare Disorders+1
20. Transition planning to adult care
As teenagers grow into adults, responsibility for health shifts from parents to the young person. Teams plan the transition from pediatric to adult cardiology, nephrology and primary care. Education focuses on medication adherence, contraception, lifestyle and work or study planning. Good transition programs reduce loss to follow-up and help prevent silent progression of organ problems. NCBI+1
Drug treatments
Important safety note:
No medicine cures Schachenmann’s (Cat eye) syndrome or corrects the chromosome. Drugs are used to treat complications, such as heart failure, infections, seizures, reflux, or growth problems. All examples below are general information, not prescriptions. Doses must always be calculated and adjusted by a doctor.
Where requested, representative drugs are cited from accessdata.fda.gov and used according to their approved indications (heart failure, seizures, etc.), not specifically “for CES.” FDA Access Data+3FDA Access Data+3FDA Access Data+3
1. Loop diuretics (e.g., furosemide)
Children with congenital heart defects and heart failure may need loop diuretics to remove excess fluid from lungs and body. Furosemide is an FDA-approved diuretic for edema due to heart failure, liver disease and kidney disease. It increases urine output by blocking sodium and chloride reabsorption in the loop of Henle. Typical doses are weight-based and adjusted to maintain breathing comfort and normal electrolytes. Side effects include dehydration, low potassium, low sodium, and rarely hearing changes. FDA Access Data+2FDA Access Data+2
2. ACE inhibitors (e.g., enalapril)
If heart failure or hypertension is present, ACE inhibitors like enalapril can reduce the workload on the heart. They block conversion of angiotensin I to angiotensin II, leading to vasodilation and less salt and water retention. FDA labeling shows their use in hypertension and heart failure, with doses titrated based on kidney function and blood pressure. Common side effects are cough, low blood pressure, high potassium and rare angioedema. FDA Access Data+2FDA Access Data+2
3. Beta-blockers (e.g., atenolol)
Some patients with repaired or unrepaired congenital heart disease may need beta-blockers to control heart rate or arrhythmias. Atenolol is a β1-selective blocker used for hypertension and angina. It reduces heart rate and contractility, lowering oxygen demand. Doses are usually once daily in adults and weight-based in children. Side effects can include fatigue, cold hands, slow pulse and, in asthma, bronchospasm. FDA Access Data+1
4. Diuretic combinations (e.g., thiazides with other agents)
Sometimes loop diuretics are not enough and doctors add a thiazide diuretic or a combination product for resistant edema or hypertension, always with careful monitoring. These drugs act on the distal tubule to increase salt and water excretion. The purpose is better fluid control in heart or kidney complications of CES. Possible risks are low potassium, low sodium and effects on blood sugar and uric acid. FDA Access Data+1
5. Antiepileptic drugs (e.g., levetiracetam)
A minority of patients with structural brain anomalies or metabolic disturbances may develop seizures. Levetiracetam is an FDA-approved antiepileptic used for partial-onset and generalized seizures. It binds to synaptic vesicle protein SV2A and modulates neurotransmitter release. Doses are given twice daily, starting low and titrating up. Common side effects include fatigue, dizziness and mood changes; stopping suddenly can worsen seizures. FDA Access Data+2FDA Access Data+2
6. Antibiotics for urinary or respiratory infections
Kidney and urinary tract anomalies, as well as heart disease, can make infections more serious. Doctors use standard antibiotics (for example, cephalosporins, penicillins) for proven infections, guided by cultures. Prophylactic low-dose antibiotics may sometimes be considered in children with recurrent urinary tract infections to protect kidneys. The mechanism is simple: suppress bacterial growth and prevent ascending infection that can scar kidneys or worsen heart strain. National Organization for Rare Disorders+1
7. Growth hormone (somatropin) in selected cases
Some children with CES may have significant short stature from associated endocrine problems. Recombinant human growth hormone (somatropin) is FDA-approved for several growth disorders. It acts by stimulating IGF-1 production and promoting bone and tissue growth. Doses are weight-based and injected subcutaneously. Side effects can include joint pain, headache, fluid retention and, rarely, increased intracranial pressure; it must be used only under strict endocrine supervision. FDA Access Data+2FDA Access Data+2
8. Proton pump inhibitors (PPIs) for reflux
If severe gastro-esophageal reflux is present, PPIs (like omeprazole, esomeprazole) may be used to reduce stomach acid. They block the H⁺/K⁺ ATPase pump in gastric parietal cells, lowering acid secretion and helping healing of esophagitis. Typical therapy is once daily before meals. Long-term use must be carefully weighed because of potential risks like altered mineral absorption and gut microbiome changes. WebMD+1
9. Stool softeners and osmotic laxatives
After anorectal surgery, constipation is common. Osmotic laxatives (such as polyethylene glycol) and stool softeners are commonly used to keep stools soft and prevent pain or fissures. They work by drawing water into the stool or reducing surface tension. Doses are adjusted so the child passes one or two soft stools per day. Side effects may include bloating or diarrhea if overdosed. NCBI+1
10. Analgesics (pain relief) after surgery or procedures
Paracetamol (acetaminophen) and carefully selected opioids may be used short-term after major surgery (cardiac, anal, renal or ear surgery). The purpose is to control pain so the patient can breathe deeply, move and feed. Acetaminophen works mainly in the central nervous system, while opioids act on μ-receptors. Both must be dosed strictly by weight, and opioids are reserved for hospital settings due to risks of respiratory depression. Cureus+1
11. Anti-arrhythmic drugs
If a child or adult develops rhythm disturbances related to congenital heart disease or surgeries, cardiologists may prescribe anti-arrhythmic drugs such as amiodarone or sotalol. These modify ion channels and conduction pathways to stabilize rhythm. Because of serious potential side effects (thyroid, lung, liver issues), they are used only when clearly needed and under intensive monitoring. National Organization for Rare Disorders+1
12. Antihypertensive combinations
Renal anomalies and repaired heart disease can sometimes lead to high blood pressure. Various antihypertensive combinations (ACE inhibitor + diuretic, beta-blocker + thiazide, etc.) may be used to keep blood pressure in target range. Lowering blood pressure protects the heart, brain and kidneys in the long term. Side effects depend on the specific drug and must be reviewed in detail with the treating doctor. FDA Access Data+2FDA Access Data+2
13. Iron supplements and anemia treatments
Recurrent surgeries, heart failure or kidney disease can lead to anemia. Doctors may prescribe iron supplements or, in some cases, erythropoiesis-stimulating agents according to standard anemia guidelines. Iron helps hemoglobin production, improving oxygen transport and energy levels. Doses are usually calculated by weight and iron deficit. Side effects of oral iron include abdominal pain, constipation or dark stools. National Organization for Rare Disorders+1
14. Vitamin D and calcium supplements
Limited mobility, poor nutrition or chronic kidney disease may weaken bones. Vitamin D and calcium supplementation follows general pediatric or adult guidelines. Vitamin D helps intestinal absorption of calcium and phosphate and supports bone mineralization. Excessive dosing can cause high calcium levels, so blood tests are used to guide safe long-term use. EyeMantra+1
15. Bronchodilators and inhaled steroids (if airway issues)
Some patients with chest wall anomalies or coexisting asthma-like symptoms may receive inhaled bronchodilators and steroids according to usual asthma care. These medications relax airway smooth muscle and reduce airway inflammation, improving breathing and exercise tolerance. Again, they are not CES-specific but treat overlapping respiratory problems. EyeMantra+1
16. Prophylactic antibiotics for heart conditions (selected cases)
In certain complex congenital heart lesions, cardiologists may recommend antibiotic prophylaxis for specific dental or surgical procedures to reduce the risk of infective endocarditis, following international guidelines. This involves a single dose of a recommended antibiotic before the procedure. Overuse is avoided to limit resistance. National Organization for Rare Disorders+1
17. Anti-reflux prokinetic agents (special situations)
If reflux remains severe despite PPIs and lifestyle measures, prokinetic agents may be considered in specialist care. They increase lower esophageal sphincter tone and speed gastric emptying, which can reduce reflux episodes. Because of potential cardiac or neurological side effects with some drugs in this class, their use is carefully limited and monitored. WebMD+1
18. Anti-spasticity or tone-modifying agents
If neurological problems cause abnormal muscle tone or spasticity, clinicians may consider medications such as baclofen or botulinum toxin injections, used widely in cerebral palsy and other conditions. They reduce muscle over-activity, improving comfort and movement. Careful dosing is required to avoid weakness, sedation or swallowing problems. NCBI+1
19. Behavioral and psychiatric medications (only when needed)
A small number of individuals may have significant behavioral or mood disorders that interfere with learning or social function. Child psychiatrists can use standard medications, such as stimulants, SSRIs or atypical antipsychotics, when non-drug approaches are insufficient and the benefits outweigh risks. Regular monitoring is vital. These medicines act on neurotransmitter systems to modulate mood, attention and impulses. WebMD+1
20. Standard peri-operative anesthetic drugs
Because many patients need surgery (anal, heart, ear, kidney), they will receive standard anesthetic agents and analgesics, carefully chosen based on heart and kidney status. Anesthesiologists adjust drug doses to maintain stable circulation and oxygenation. These medications do not treat CES itself but make essential surgeries safe and tolerable. Cureus+1
Dietary molecular supplements
There are no supplements proven to correct the chromosome defect, but good nutrition supports growth, immune function and wound healing. All supplements must be supervised by a doctor or dietitian, especially when heart or kidney disease is present.
1. Balanced multivitamin–mineral formula
A standard age-appropriate multivitamin can help fill minor gaps in diet, especially in picky eaters or children with feeding difficulties. These formulas usually contain vitamins A, C, D, E, B-complex and minerals like zinc and selenium. They support immune function, red blood cell formation and tissue repair. Doses must not exceed recommended daily allowances, since overdosing fat-soluble vitamins can be harmful. WebMD+1
2. Vitamin D supplement
Vitamin D is vital for bone health and immune regulation. For children with limited sun exposure, poor intake or chronic illness, supplementation according to national guidelines may be necessary. Vitamin D enhances calcium absorption in the gut and helps bone mineralization. Too much vitamin D can cause high blood calcium, so blood tests sometimes guide dose adjustments. EyeMantra+1
3. Calcium supplementation (if indicated)
If dietary calcium is low or bone density is reduced, doctors may recommend calcium supplements in addition to dietary sources like dairy or fortified plant milks. Calcium provides the building blocks for bones and teeth and is essential for muscle contraction and heart rhythm. In kidney disease, total calcium intake must be carefully balanced to avoid calcification. EyeMantra+1
4. Iron supplements (when iron deficiency confirmed)
Iron deficiency can worsen fatigue and slow development. If lab tests show low ferritin and iron, oral iron syrups or tablets may be prescribed. Iron supports hemoglobin and myoglobin, helping red blood cells carry oxygen. It also participates in many enzyme systems. Excess iron is toxic, so supplements should never be given without confirmed deficiency and medical supervision. National Organization for Rare Disorders+1
5. Omega-3 fatty acids (fish-oil or algae-based)
Omega-3 fatty acids (EPA and DHA) support brain development, vision and cardiovascular health. Dietary sources include oily fish; supplements may be used if intake is low or the child cannot eat fish. They act by incorporating into cell membranes and modulating inflammatory pathways. Bleeding risk and interactions with other drugs must be considered at high doses. Northwest Eye+1
6. High-energy oral nutrition formulas
Some children have increased energy needs or poor appetite. High-calorie pediatric formulas provide concentrated protein, fats, carbohydrates and micronutrients in small volumes. These products help catch-up growth and support recovery after surgery. They work simply by increasing the total intake of nutrients per milliliter, but must be tailored to heart and kidney function to avoid fluid overload. WebMD+1
7. Protein-enriched supplements
In children or adults with poor muscle mass or delayed wound healing, protein-enriched drinks or powders may be used under dietitian guidance. Protein provides amino acids needed for tissue repair, enzyme production and immune proteins. Too much protein may strain kidneys, especially if kidney anomalies exist, so careful balancing is essential. National Organization for Rare Disorders+1
8. Zinc supplementation (if deficient)
Zinc is important for growth, wound healing and immunity. In confirmed zinc deficiency or severe malnutrition, supplementation improves taste, appetite and resistance to infection. It acts as a cofactor in many enzymes and transcription factors. Long-term high-dose zinc can cause copper deficiency, so laboratory monitoring is required. EyeMantra+1
9. Probiotics (carefully selected)
Some clinicians may consider probiotics in children with frequent antibiotic use or gut issues, although evidence is still evolving and strain-specific. Probiotics may help restore gut microbiome balance, improve stool consistency and support immune function in the gut. However, in immunocompromised or very ill patients, probiotics must be used cautiously due to rare reports of bacteremia. EyeMantra+1
10. Fiber supplements
If diet is low in natural fiber and constipation persists despite dietary changes, soluble fiber supplements may be used. They absorb water and form a gel, softening stools and promoting regular bowel movements, which is especially useful after anorectal surgery. Adequate water intake must accompany fiber use to prevent impaction. NCBI+1
Immunity-booster/ regenerative / stem-cell–type therapies
At present, there are no specific immune-booster drugs or stem-cell therapies approved to treat Schachenmann’s (Cat eye) syndrome itself. Research on stem cells focuses on specific heart defects, bone marrow failure syndromes, or other separate conditions, not on CES as a whole. Any mention here must remain high-level and non-prescriptive.
1. Standard vaccination programs (strongly recommended)
The safest and most effective “immune support” is completion of all routine vaccines and recommended additional vaccines (influenza, pneumococcal, etc.). Vaccines train the immune system to recognize pathogens without causing severe disease, reducing infection risk and preventing complications in vulnerable organs like the heart and kidneys. National Organization for Rare Disorders+1
2. Optimized nutrition and sleep as natural immune support
Good nutrition, adequate sleep and physical activity are fundamental for a healthy immune response. They improve barrier function of the gut and skin, support production of immune cells and lower chronic stress hormones that can weaken immunity. This is safer and more evidence-based than unregulated “immune booster” products. EyeMantra+1
3. Hematopoietic stem-cell transplant (HSCT) – only for specific coexisting conditions
HSCT is a major therapy used in certain blood and immune diseases, but not routinely for CES. In the rare event that a person with CES also has another disorder that genuinely requires HSCT (such as a severe bone-marrow disease), transplant might be considered according to that disease’s guidelines. It is a very high-risk procedure with serious complications and is done only in specialized centers. National Organization for Rare Disorders+1
4. Experimental cardiac regenerative approaches
In theory, stem-cell–based techniques are being studied for some types of heart failure, especially in adults. None are standard care in children with cat eye syndrome. Participation in such trials, if ever considered, must occur only within regulated clinical research with full informed consent and ethical oversight. Wiley Online Library+1
5. Experimental gene or chromosome-targeted therapies
Because CES is caused by extra genetic material from chromosome 22, future therapies might explore gene-level or chromosome-level correction, but currently this is research-only. No clinical gene therapy is approved for CES. Any discussion of these approaches remains hypothetical and must not be presented as a current treatment option. Wiley Online Library+1
6. Immune-modulating drugs
Standard immune-modulating drugs (steroids, biologics) are used only if a separate autoimmune or inflammatory disease arises. They are not used to “boost immunity” in Schachenmann’s syndrome. These drugs alter immune pathways and carry significant risks of infection, so they are strictly specialist-directed. WebMD+1
Surgeries
Surgery is central in managing many key anomalies in Schachenmann’s syndrome.
1. Surgical repair of anal atresia / anorectal malformations
Many babies with CES have anal atresia (no opening of the anus). Surgeons perform staged operations to create a temporary colostomy and later reconstruct the anal canal and sphincter. The purpose is to allow safe passage of stool and protect the bowel from perforation and infection. Long-term bowel management and pelvic floor training follow these surgeries. National Organization for Rare Disorders+2Cureus+2
2. Correction of congenital heart defects (including TAPVR)
Heart defects such as total anomalous pulmonary venous return (TAPVR) or interrupted aortic arch are reported in CES. Pediatric cardiac surgeons repair abnormal vessels and septal defects using cardiopulmonary bypass. The goal is to restore normal blood flow and oxygen delivery. Successful repair can dramatically improve growth, exercise capacity and survival. National Organization for Rare Disorders+2Chromosome Disorder Outreach, Inc+2
3. Surgery for ear anomalies and hearing restoration
Microtia (small ear) or atresia of the ear canal may require reconstructive surgery. Surgeons may create or widen the ear canal and reconstruct the outer ear. In some cases, they may implant bone-anchored hearing devices. The purpose is to improve sound conduction and appearance, enhancing social interaction and language development. NCBI+1
4. Renal and urinary tract surgery
Structural kidney or urinary anomalies (e.g., obstructive megaureter, severe reflux) may require surgical correction to preserve kidney function and prevent recurrent infections. Surgeons may re-implant ureters, correct obstructions or remove non-functioning segments. Mechanistically, surgery helps normalize urine flow, reducing back-pressure and infection risk. National Organization for Rare Disorders+1
5. Eye and eyelid surgery in selected cases
While iris coloboma itself cannot always be “repaired,” surgery may be used to correct associated problems like cataracts, strabismus or eyelid anomalies that threaten vision. The aim is to optimize visual input to the brain, prevent amblyopia and relieve cosmetic concerns. Operations are carefully timed with respect to overall health and anesthesia risk. All About Vision+2NCBI+2
Prevention – what can and cannot be prevented
There is no known way to prevent the chromosomal error that causes Schachenmann’s syndrome. However, we can try to prevent complications and improve outcomes.
Prenatal diagnosis in high-risk families – Genetic counselling and, if appropriate, prenatal testing can identify CES early in future pregnancies so families can plan care or make informed reproductive choices. National Organization for Rare Disorders+1
Early postnatal screening of organs – Comprehensive evaluation (heart, kidneys, eyes, ears, spine, anus) soon after birth allows timely surgery or interventions before complications develop. NCBI+1
Strict infection prevention and vaccination – Proper handwashing, up-to-date vaccines and prompt treatment of infections help prevent pneumonia, sepsis and kidney damage. National Organization for Rare Disorders+1
Regular cardiac check-ups – Echocardiography and ECGs detect progression of heart defects or heart failure early, when treatment is safer and more effective. National Organization for Rare Disorders+1
Renal monitoring and UTI prevention – Regular urine tests and renal imaging, plus early antibiotic treatment of UTIs, help protect kidney function. National Organization for Rare Disorders+1
Safe peri-operative care – Good planning for anesthesia and surgery, with attention to heart and kidney status, reduces surgical risk. Cureus+1
Healthy lifestyle (diet, activity, no smoking exposure) – Balanced diets, exercise appropriate to heart status and avoidance of tobacco smoke reduce long-term cardiovascular and respiratory risks. WebMD+1
Regular dental care – Preventing dental infections lowers the risk of endocarditis and improves nutrition and comfort. EyeMantra+1
Early developmental and educational support – Early intervention programs and special education reduce long-term learning and social difficulties. NCBI+1
Transition planning to adult care – Prevents loss to follow-up during adolescence, reducing risk of untreated heart, kidney or mental-health issues in adulthood. NCBI+1
When to see a doctor urgently
People with Schachenmann’s syndrome should seek urgent medical care if any of the following occur:
Breathing difficulty, blue lips or severe tiredness – may signal heart failure, serious lung infection or oxygen problems. National Organization for Rare Disorders+1
Poor feeding, repeated vomiting, or failure to gain weight in a baby – can indicate heart disease, intestinal obstruction, reflux complications or other serious issues. WebMD+1
High fever, flank pain, or burning urination – may suggest kidney or urinary tract infection that can quickly damage kidneys. National Organization for Rare Disorders+1
Seizures, sudden changes in consciousness or behavior – require emergency assessment to rule out brain infection, electrolyte disturbance or epilepsy. FDA Access Data+1
Sudden swelling of legs, rapid weight gain, or new cough – can be signs of fluid overload and heart failure. National Organization for Rare Disorders+1
Severe abdominal distension or no stool in a newborn – may indicate unrecognized anal atresia or bowel obstruction. National Organization for Rare Disorders+1
For routine follow-up, families should keep regular appointments with cardiology, nephrology, ophthalmology, ENT, surgery, nutrition and developmental services as recommended.
What to eat and what to avoid
Diet must be tailored to the individual’s heart and kidney status, growth needs and swallowing ability. Always follow a dietitian’s and doctor’s advice.
What to emphasize
Balanced, nutrient-dense meals – Focus on fruits, vegetables, whole grains, lean proteins and healthy fats to support growth, immunity and wound healing.
Adequate protein – Within kidney-safe limits, protein from fish, eggs, dairy, lentils and lean meats supports muscle growth and recovery from surgery.
Sufficient calories for growth – High-energy, small, frequent meals and specialized formulas may be needed for children with poor appetite or heart disease. WebMD+1
Fiber-rich foods – Oats, fruits, vegetables and legumes help prevent constipation, crucial after anorectal surgery.
Adequate fluids (as allowed) – Enough fluid (within any cardiac or renal fluid restrictions) helps bowel function and kidney health. NCBI+1
What to limit or avoid
Excess salt – Too much sodium (from processed foods, chips, instant noodles, salty snacks) can worsen heart failure and hypertension. National Organization for Rare Disorders+1
Sugar-sweetened drinks and junk food – They add empty calories, worsen dental health and contribute to obesity and metabolic problems.
High-phosphate processed foods (in advanced kidney disease) – Processed meats, cola drinks and certain cheese products can stress diseased kidneys. National Organization for Rare Disorders+1
Unregulated herbal “immune boosters” or mega-dose supplements – These may interact with heart or seizure medications, or harm kidneys and liver.
Caffeinated energy drinks (in teenagers) – They can stress the heart and disturb sleep, especially risky in congenital heart disease. WebMD+1
Frequently asked questions (15 FAQs)
1. Is Schachenmann’s syndrome the same as Cat eye syndrome?
Yes. Schachenmann’s syndrome is one of the historical names for Cat eye syndrome. Other synonyms include Schmid–Fraccaro syndrome and partial tetrasomy 22q11. All refer to the same core chromosomal disorder involving extra genetic material from chromosome 22. NCBI+2National Organization for Rare Disorders+2
2. What causes Schachenmann’s (Cat eye) syndrome?
It is caused by an extra tiny chromosome made of the short arm and part of the long arm of chromosome 22 (a small supernumerary marker chromosome). This leads to three or four copies of some genes instead of two, disturbing organ development. Most cases are sporadic and not inherited from the parents. NCBI+2Wiley Online Library+2
3. Can it be cured with medicines?
No. Medicines cannot remove the extra chromosome. Treatment focuses on individual problems: heart defects, anal atresia, kidney malformations, hearing loss, eye problems and developmental issues. Many complications can be treated or improved, but the underlying chromosomal change remains. National Organization for Rare Disorders+2WebMD+2
4. Is life expectancy always short?
Life expectancy varies widely. Some patients with severe heart or kidney defects may have serious risks early in life. Others with milder defects and good treatment can survive into adulthood with near-normal life expectancy. Prognosis depends mainly on the number and severity of organ anomalies and the quality of medical care. National Organization for Rare Disorders+2Chromosome Disorder Outreach, Inc+2
5. Is Schachenmann’s syndrome common?
No. It is rare, with approximate estimates of 1 in 50,000–150,000 births, though exact numbers may vary by study. Many clinicians will see only a few cases, so being followed at a center experienced in rare genetic disorders can be helpful. All About Vision+1
6. How is the diagnosis made?
Doctors suspect the syndrome based on typical physical features (iris coloboma, preauricular tags, anal atresia, heart and kidney defects). Genetic testing such as karyotype, FISH or chromosomal microarray shows the extra 22q11 marker chromosome. Prenatal ultrasound may detect some anomalies, and diagnosis is confirmed with fetal genetic testing. All About Vision+2NCBI+2
7. Will all children with Schachenmann’s syndrome look the same?
No. CES is highly variable. Some children have many classic features, while others have only mild anomalies such as isolated ear tags and mild learning difficulties. Even within the same family, severity may differ. National Organization for Rare Disorders+2Gazi Medical Journal+2
8. What are the most important early treatments?
In newborns and infants, the top priorities are: securing breathing and circulation; detecting and fixing anal atresia; assessing heart and kidney status; checking hearing and vision; and arranging early nutritional and developmental support. These steps help stabilize the baby and prevent avoidable damage. NCBI+2National Organization for Rare Disorders+2
9. Can children with Schachenmann’s syndrome go to regular school?
Many can, especially those with milder anomalies. Some will need special education support, classroom adaptations or one-to-one assistance. The right setting depends on cognitive abilities, hearing and vision, and associated medical needs. Ongoing collaboration between family, school and healthcare team is essential. NCBI+1
10. Are there special precautions for surgery or anesthesia?
Yes. Anesthesiologists must know about the child’s heart defects, kidney status, airway anatomy and any previous surgeries. Pre-operative cardiac and renal assessment is important. With good planning and experienced teams, surgery can often be performed safely. Cureus+1
11. Is pregnancy possible for women with Schachenmann’s syndrome?
Some women with milder forms reach adulthood and may become pregnant. They need thorough pre-pregnancy counselling about cardiac and renal risks and prenatal testing options. Pregnancy must be monitored by high-risk obstetrics and cardiology teams. Recurrence risk to the baby depends on the exact chromosomal finding and must be discussed with a genetic counsellor. National Organization for Rare Disorders+1
12. Can Schachenmann’s syndrome be prevented in future pregnancies?
We cannot change the chance of a new chromosome error, but couples can use prenatal testing or, in some settings, pre-implantation genetic testing to identify affected embryos. The decision to use these technologies is personal and should follow counselling about risks, benefits and ethical aspects. National Organization for Rare Disorders+1
13. Are “stem cell clinics” offering cures reliable?
At present, no stem-cell therapy is approved to cure CES or remove extra chromosome 22. Commercial clinics that promise cures without clear evidence or regulatory approval should be viewed with extreme caution. Evidence-based care should be received at recognized hospitals or within properly regulated clinical trials, not in unregulated “medical tourism” settings. Wiley Online Library+1
14. How can families find support?
Families can connect with rare disease organizations, congenital heart disease groups, and chromosome disorder foundations that include Cat eye syndrome. These groups share practical experience, emotional support, and trustworthy educational resources, and may help families participate in research. National Organization for Rare Disorders+2Chromosome Disorder Outreach, Inc+2
15. What is the single most important message for parents?
The most important message is that you are not alone, and many complications of Schachenmann’s syndrome are manageable with modern multidisciplinary care. Early diagnosis, close follow-up of heart, kidneys, hearing, vision and development, and strong family and community support can greatly improve your child’s quality of life and long-term outlook. NCBI+2National Organization for Rare Disorders+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.
