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

The Physical and Developmental Landscape of CES

At a Glance

Cat-Eye Syndrome (CES) symptoms are highly variable. While classic signs include a gap in the eye (iris coloboma), anal atresia, and ear skin tags, less than 50% of children have all three. CES can also impact the heart, kidneys, and physical growth, requiring thorough pediatric screening.

Because Cat-Eye Syndrome (CES) is so variable, no two children will have the exact same set of symptoms. Some children may have multiple health challenges from birth, while others may only have one or two mild features [1][2].

The “Classic” Physical Signs

Historically, doctors looked for three specific signs (the “classic triad”) to diagnose this condition. However, fewer than 50% of children with the genetic marker for CES actually have all three [1][3][4].

  • Iris Coloboma: A gap or “hole” in the colored part of the eye (the iris), often making the pupil look like a keyhole or a cat’s eye [1]. Many children with CES do not have it.
  • Anal Atresia (Imperforate Anus): This occurs when the opening to the anus is missing or blocked [1]. While hearing this can be terrifying for new parents, it is a well-understood condition that is highly correctable; standard pediatric reconstructive surgeries performed shortly after birth have very high success rates [5].
  • Preauricular Tags or Pits: Small, harmless growths of skin (tags) or tiny “pinprick” holes (pits) located just in front of the ear [2].

Internal Organ Systems

Beyond the visible signs, CES can affect how internal organs develop. About 51% of children with CES have some form of heart defect [2].

The Heart

The most common heart issue in CES is Total Anomalous Pulmonary Venous Return (TAPVR) [6]. In this condition, the blood vessels that bring oxygen-rich blood from the lungs back to the heart do not connect in the right place. Other common issues include atrial septal defects (holes between the heart’s upper chambers) [6]. A thorough evaluation by a cardiologist is essential [1].

The Kidneys and Digestive System

  • Renal (Kidney) Malformations: Around 32% of children have defects in the urinary tract or kidneys, such as a missing kidney or kidneys that are shaped differently [2].
  • Biliary Atresia: A rare condition where the bile ducts (the tubes that carry fluid from the liver) are blocked or missing [1].
  • Diaphragmatic Hernia: In rare cases, a hole in the diaphragm allows abdominal organs to move into the chest [7].

Growth and Learning

The extra genetic material can also influence how a child grows and processes information.

  • Endocrine Issues: Some children have growth hormone deficiency, which can lead to a shorter stature if not addressed [4][8].
  • Intellectual Development: About 47% of individuals with CES have some level of intellectual disability, typically mild to moderate [9][2]. However, over half of individuals with CES have typical cognitive development and no learning delays [10].

Craniofacial Features

Other common facial features may include hypertelorism (eyes spaced widely apart) and down-slanting palpebral fissures (the outer corners of the eyes point downward) [1][11]. These subtle features do not affect health but are part of the syndrome’s presentation.

Common questions in this guide

What are the classic physical signs of Cat-Eye Syndrome?
The classic triad includes iris coloboma (a gap in the colored part of the eye), anal atresia (missing or blocked anal opening), and small skin tags or pits in front of the ears. However, fewer than 50% of children with CES actually have all three of these signs.
Does Cat-Eye Syndrome cause heart defects?
Yes, about 51% of children with CES are born with a heart defect. The most common condition is Total Anomalous Pulmonary Venous Return (TAPVR), though atrial septal defects (holes in the heart) are also frequently seen.
Will my child with Cat-Eye Syndrome have a learning disability?
Cognitive development varies widely. About 47% of individuals with CES have mild to moderate intellectual disability. However, over half of those with the condition have typical cognitive development and no learning delays.
How does Cat-Eye Syndrome affect a child's growth?
Some children with Cat-Eye Syndrome have a growth hormone deficiency. If left unaddressed, this deficiency can lead to a shorter stature, which is why regular monitoring of your child's growth pattern is important.
What other internal organs are affected by CES?
Beyond the heart, about 32% of children have kidney or urinary tract malformations. In rare cases, babies may also have biliary atresia (blocked bile ducts) or a diaphragmatic hernia.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on my child's diagnosis, which organ systems (heart, kidneys, etc.) should be screened immediately?
  2. 2.Does my child have 'Total Anomalous Pulmonary Venous Return' (TAPVR) or any other specific heart defects?
  3. 3.Can you recommend a developmental pediatrician to help us monitor my child's learning and cognitive growth?
  4. 4.Should we be monitoring my child's growth more closely for signs of growth hormone deficiency?

Questions For You

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References

References (11)
  1. 1

    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
  2. 2

    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
  3. 3

    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
  4. 4

    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
  5. 5

    Patient-Reported Bladder, Bowel, and Sexual Function After Cauda Equina Syndrome Secondary to a Herniated Lumbar Intervertebral Disc.

    Lam J, deSouza RM, Laycock J, et al.

    Topics in spinal cord injury rehabilitation 2020; (26(4)):290-303 doi:10.46292/sci19-00065.

    PMID: 33536735
  6. 6

    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
  7. 7

    Congenital diaphragmatic hernia in a case of Cat eye syndrome.

    Alsat EA, Reutter H, Bagci S, et al.

    Clinical case reports 2018; (6(9)):1786-1790 doi:10.1002/ccr3.1646.

    PMID: 30214764
  8. 8

    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
  9. 9

    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
  10. 10

    A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.

    Li J, Zhang Y, Diao Y, et al.

    Case reports in genetics 2021; (2021()):8824184 doi:10.1155/2021/8824184.

    PMID: 33728075
  11. 11

    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

This page provides informational content about Cat-Eye Syndrome symptoms and development. It is not a substitute for professional medical advice or a comprehensive evaluation by your child's pediatric specialists.

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