Introduction

Cat eye syndrome (CES) is a rare genetic condition that affects approximately one in 50,000 to one in 150,000 live births.¹ Extra copies of a part of chromosome 22 trigger it.^2,3

CES shows a wide range of symptoms in different people, varying in severity and which organs are impacted. The main symptoms often involve eye issues, the lack of an anus, and scars on the skin. Some individuals may also have congenital heart problems.^4,5

Identifying and treating congenital malformations in cat eye syndrome early is important to help patients do better and prevent serious issues, even though only a few patients may show these uncommon traits.^4,5

This article focuses on the different surgical options available to address the common anal and organ abnormalities seen in individuals with cat eye syndrome.

Common malformations in Cat Eye Syndrome

Anal Malformations

Anal atresia (absence of anal opening)

The anal opening plays a crucial role in the physiological processes of defecation and faecal continence. The anal opening is the final pathway for the elimination of waste.⁴

Anal atresia is a significant, though not always present, component of Cat Eye Syndrome, often occurring with other digestive malformations. The high variability in clinical presentation shows the importance of considering a CES diagnosis even when not all classical triad symptoms are present.⁴

Visceral Organ Malformations

CES can also involve internal organ malformations that vary in severity:

Renal abnormalities

Renal (kidney) abnormalities are a recognised feature of CES, including renal defects such as unilateral or bilateral kidney hypoplasia, cystic dysplasia, and even the absence of a kidney.⁶

Heart defects

Congenital heart disease is a major and frequent feature, affecting about half of CES patients, and is often the most significant factor. The most commonly reported cardiac anomalies include total anomalous pulmonary venous return (TAPVR), atrial and ventricular septal defects.⁷

Digestive tract

Conditions like intestinal malrotation or duodenal atresia can obstruct normal digestion.

Diagnostic workup before surgery

Before any surgical procedure, a thorough diagnostic evaluation is essential. The wide range of clinical characteristics, which might include developmental disabilities, genitourinary deformities, congenital heart defects, and other organ system abnormalities, makes diagnosis difficult.

Clinical Diagnostic Criteria

The familiar three signs of CES are iris coloboma, anal atresia, and skin tags near the ear. These appear in a few patients who have just one or two signs. Because of this, diagnosing CES only by how it looks is not reliable.⁴

Cytogenetic and Molecular Diagnostic Approaches
Most cases of CES involve an extra small chromosome that comes from chromosome 22. This causes extra copies (partial trisomy or tetrasomy) of a part of chromosome 22. A lab test called karyotyping can see the extra piece.^2,3

Echocardiography

An echocardiogram is an ultrasound test that takes moving pictures of the heart. It helps doctors check if there are any birth defects, such as small holes in the heart or problems with the heart valves, so they can be treated early if needed.⁷

MRI or CT scans

If an ultrasound does not show enough detail, doctors may order an MRI or a CT scan. These tests create clearer images of the body and can help find problems in the spine, brain, or other organs that might need extra attention or treatment.⁸

Genetic testing

Genetic testing looks at a child’s DNA to see if they have Caudal Regression Syndrome (CES). It can also find other related health problems, which helps doctors and families make plans for future care. Management typically involves a multidisciplinary team, including pediatric surgeons, cardiologists, urologists, and clinical geneticists.^2,8

Surgical options for anal malformations

Surgical correction, typically via staged procedures, is the main treatment for anal atresia or imperforate anus in CES patients. However, specific surgical protocols are adapted to the individual’s anatomy and associated anomalies.⁸

Children who have anal malformations along with closed spinal defects often need several surgeries. This is because both the structure and nerve function of the bowel and bladder are involved. At first, they may need a series of operations to create and place the anus correctly. Later, more surgeries might be needed if there are problems like scarring, misplacement, or trouble with control. Sometimes, issues with the spine or bladder also need separate surgeries, so caring for these children can be a long-term process.⁸

Initially, doctors often perform a colostomy, which creates a temporary opening for waste to exit the body. Later, after the patient is stable and doctors do the main repair (like a posterior sagittal anorectoplasty or a similar operation). The colostomy is closed after the new repair heals well.⁹

Techniques

Surgeons assess the type and severity of the malformation, then choose the procedure. They look for heart, urinary, or genital defects. These extra problems can change the risk of surgery. Studies report strong outcomes with staged surgery. Some people still experience occasional faecal incontinence or slower development. The long-term outlook depends on other CES-linked problems.⁹

Timing

The timing of surgery is very important. If the opening (defect) makes it hard to pass stool, a temporary opening from the bowel (emergency colostomy) may be needed in the first days after birth.^8,9

Surgical Management of Visceral Organ Malformations

Surgery can help with certain internal organ issues in CES, like biliary atresia, which can be very dangerous if not treated.

Kasai surgery is the standard surgical treatment for biliary atresia and has been successfully performed in a CES patient, resulting in favourable clinical evolution and improved quality of life with ongoing multidisciplinary follow-up.¹⁰ 

Postoperative Care and Follow-Up

After surgery, children receive ongoing personalised care tailored to their specific requirements. This care involves:^8,9

•  Monitoring for any blockages, diseases, or complications
•  Regular checks on organ performance, like heart and kidney assessments
•  Collaborating with specialists to manage nutrition, growth, and brain development
•  Providing continual support to families by educating them on future prospects and home-based care

Challenges and Ethical Considerations

CES involves several organs, so treatment is hard. An unclear outlook or repeated operations puts parents in tough situations. Surgeons weigh each procedure’s quick gains against its risks and the child’s later life. Care teams should give regular moral support and speak with clear, kind words.

Summary

Cat eye syndrome (CES) is a rare genetic condition. This condition can affect many parts of the body, such as the heart, kidneys, eyes, and other organs.  Getting to know about cat eye syndrome early on and setting up a planned surgery can truly help children. To give the care needed, a team of professionals, including workers,  surgeons, heart doctors, and eye doctors, works together. They can all focus on what the child needs. Even though these problems may seem big, starting to help and care for them early gives children the best chance to grow well and live a happy life. With regular checks and ongoing help from doctors and family, children with cat eye syndrome can have a better quality of life.

FAQs

What causes Cat Eye Syndrome (CES)?

CES happens when a child has extra genetic material from chromosome 22. This change usually occurs by chance and is not typically passed down from parents.^1,2,3

How do doctors find out if my child has CES?

Doctors look at physical signs (like eye changes, anal malformations, or ear tags). They may use tests such as heart ultrasound (echocardiogram), MRI or CT scans, and genetic testing to confirm the diagnosis.^2,3,4,7,8

Can my child live a normal life with CES?

Many children with CES can grow and develop well. Early treatment, surgery when needed, and regular follow-up visits give the best chance for a healthy and active life. Early therapy (such as speech or occupational therapy) and extra support at school can help your child reach their potential.^8,9,10

Will my child need surgery?

Some children need one or more surgeries, especially if they have anal, heart, or kidney problems. Surgeries are usually planned in steps and carefully timed to keep your child safe and healthy.¹⁰

Does CES affect learning and development?

Some children may have learning delays, while others learn normally.¹¹

Is there a cure for CES?

There is no cure because CES is genetic. Treatment focuses on fixing or managing health problems so your child can live as fully as possible.¹¹

How can families cope with CES?

Staying connected with your child’s medical team, joining support groups, and talking to other families can provide comfort and guidance. Counselling and emotional support for parents are also very helpful.^8,9