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PubMed This is a summary of 11 peer-reviewed journal articles Updated
Medical Genetics

Building Your Care Team: First Steps after Diagnosis

At a Glance

Because Cat-Eye Syndrome (CES) symptoms are highly variable, treatment requires a personalized, symptom-based approach. Following diagnosis, your child must undergo baseline evaluations—including heart, kidney, eye, ear, and endocrine tests—to build a multidisciplinary care team.

Because Cat-Eye Syndrome (CES) is so rare and variable, there are no “one-size-fits-all” consensus guidelines for its management [1][2]. Care is highly personalized, focusing on the specific symptoms your child has rather than a generic checklist.

Building a multidisciplinary care team is the most important first step. This team will act as a safety net, ensuring that every major organ system is evaluated and supported as your child grows [2][3].

The Initial Baseline Vetting

Every child diagnosed with CES should undergo a set of baseline evaluations, ideally within the first few weeks of life or immediately upon diagnosis. These tests are essential because some serious internal issues may not be visible from the outside [1].

  • Cardiac Evaluation (Echocardiogram): About 51% of children with CES have heart defects [4]. An echocardiogram is required to screen for conditions like Total Anomalous Pulmonary Venous Return (TAPVR) [5][6].
  • Abdominal and Renal Ultrasound: This scan checks for internal malformations in the kidneys, urinary tract, and liver [2][1].
  • Ophthalmology Exam: A pediatric ophthalmologist should check for colobomas (gaps in eye tissue) and assess vision and eye movement [1][7].
  • Hearing Screening (Audiology): Outer ear anomalies (like skin tags) are common. However, CES can also cause malformations in the internal structures of the ear. A formal hearing test by an audiologist is necessary to check for any degree of hearing loss, regardless of whether the outer ears look typical [8][1].
  • Endocrine Screening: Doctors should screen for growth hormone deficiency, thyroid issues, and cortisol levels, especially if growth is slow [1][9].

Building Your Medical Roster

Depending on your child’s specific needs, your care team may include a wide range of specialists. A medical geneticist often acts as the central hub for this team [6].

Specialist Role in CES Care
Pediatric Surgeon For correcting anal atresia or other gastrointestinal/heart issues [6].
Cardiologist To monitor heart structure and function [5].
Otolaryngologist (ENT) To evaluate inner/middle ear anatomy, treat hearing loss, or address midline defects like cleft palate [8].
Endocrinologist To monitor growth and treat hormone deficiencies [9].
Ophthalmologist To manage vision and screen for internal eye defects [10].
Gastroenterologist To address digestion or liver issues [2].
Developmental Pediatrician To track milestones and provide early intervention [11].

Moving Forward: A Symptom-Based Approach

Because CES is “phenotypically heterogeneous,” your child’s management will be guided by what they need right now [8]. If your child does not have a heart defect or kidney issue, they won’t need the same intensive follow-up as a child who does [6][2].

Common questions in this guide

What baseline tests are needed after a Cat-Eye Syndrome diagnosis?
Every child diagnosed with CES should undergo a cardiac echocardiogram, an abdominal and renal ultrasound, an ophthalmology exam, a formal hearing screening, and endocrine testing. These baseline evaluations check for internal anomalies that may not be visible from the outside.
Which doctors should be on a Cat-Eye Syndrome care team?
Your child's care is usually coordinated by a medical geneticist or pediatrician. Depending on your child's specific symptoms, the team may also include a pediatric surgeon, cardiologist, ENT specialist, endocrinologist, ophthalmologist, gastroenterologist, and developmental pediatrician.
Does my child need an immediate heart check after a CES diagnosis?
Yes, about 51% of children with Cat-Eye Syndrome have heart defects. An immediate echocardiogram is required to screen for serious structural heart conditions, such as Total Anomalous Pulmonary Venous Return (TAPVR).
Why does my child need a hearing test if their ears look normal?
Cat-Eye Syndrome can cause malformations in the internal structures of the ear, even if the outer ears look completely typical. A formal test by an audiologist is necessary to accurately detect any degree of hearing loss.
Will my child with CES need to see all these specialists forever?
No, care is entirely guided by your child's specific needs. If baseline tests show your child does not have a heart defect or kidney issue, they will not require the same intensive follow-up in those specific areas as a child who does.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Does our child need an immediate echocardiogram to rule out 'Total Anomalous Pulmonary Venous Return' (TAPVR)?
  2. 2.Which specialists (e.g., ophthalmology, urology, endocrinology) should we see first based on my child's physical exam?
  3. 3.Is there a care coordinator at this hospital who can help us manage the different appointments with the multidisciplinary team?
  4. 4.How often should we be screening for hearing loss or growth hormone issues as my child gets older?
  5. 5.Can you help us find a pediatric surgeon who has experience with anorectal malformations or biliary atresia, if needed?

Questions For You

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References

References (11)
  1. 1

    Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

    Serra G, Giambrone C, Antona V, et al.

    Italian journal of pediatrics 2022; (48(1)):170 doi:10.1186/s13052-022-01365-9.

    PMID: 36076277
  2. 2

    Cat Eye Syndrome with a Unique Liver and Dermatological Presentation.

    Mansur M, Jacob TJ, Wong H, Tarascin I

    Cureus 2023; (15(4)):e37142 doi:10.7759/cureus.37142.

    PMID: 37153326
  3. 3

    Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.

    Wang Y, Zhang P, Chai Y, Zang W

    Molecular cytogenetics 2023; (16(1)):28 doi:10.1186/s13039-023-00660-2.

    PMID: 37880750
  4. 4

    Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

    Jedraszak G, Jobic F, Receveur A, et al.

    American journal of medical genetics. Part A 2024; (194(4)):e63476 doi:10.1002/ajmg.a.63476.

    PMID: 37974505
  5. 5

    An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

    Williams JL, McDonald MT, Seifert BA, et al.

    Journal of pediatric genetics 2021; (10(1)):35-38 doi:10.1055/s-0039-1701020.

    PMID: 33552636
  6. 6

    Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.

    Katz B, Enright J, Couch S, et al.

    Ophthalmic genetics 2020; (41(6)):645-649 doi:10.1080/13816810.2020.1814346.

    PMID: 32865081
  7. 7

    A Chinese family with cat eye syndrome and abnormality of eye movement: First case report.

    Lu Y, Shen L, Zheng Y, et al.

    Frontiers in pediatrics 2023; (11()):1145183 doi:10.3389/fped.2023.1145183.

    PMID: 37114001
  8. 8

    Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.

    Xu L, Cheng X, Tang L, et al.

    BMC pediatrics 2024; (24(1)):658 doi:10.1186/s12887-024-05136-9.

    PMID: 39402511
  9. 9

    Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

    Jedraszak G, Braun K, Receveur A, et al.

    Annales d'endocrinologie 2015; (76(5)):629-34.

    PMID: 26518262
  10. 10

    Cat-Eye Syndrome: A Report of Two Cases and Literature Review.

    Gaspar NS, Rocha G, Grangeia A, Soares HC

    Cureus 2022; (14(6)):e26316 doi:10.7759/cureus.26316.

    PMID: 35911297
  11. 11

    Mosaic cat eye syndrome in a child with unilateral iris coloboma.

    Hernández-Medrano C, Hidalgo-Bravo A, Villanueva-Mendoza C, et al.

    Ophthalmic genetics 2021; (42(1)):84-87 doi:10.1080/13816810.2020.1839918.

    PMID: 33465332

This page provides educational information about building a care team for Cat-Eye Syndrome. Always consult your medical geneticist or primary care pediatrician for personalized medical advice regarding your child's health.

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