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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Genetics

Building Your Care Team: Specialists and Support

At a Glance

Managing EEC syndrome requires a multidisciplinary care team, including a geneticist, craniofacial surgeon, cornea specialist, urologist, and dental experts. Because the condition affects multiple body systems, coordinating care between these specialists is critical for long-term health.

Managing EEC syndrome is a team effort. Because this condition can affect so many different parts of the body—from the kidneys to the eyes to the teeth—no single doctor can provide all the required care. Building a strong multidisciplinary team (a group of specialists working together) is the most important step you can take to ensure long-term health and quality of life [1][2][3].

Your Specialist “Dream Team”

Ideally, care should be anchored by a team of experts who have experience with rare genetic conditions.

  • Geneticist: They provide the “map” for care by confirming the TP63 mutation, explaining inheritance, and offering family planning counseling [4][5].
  • Craniofacial Surgeon: This specialist (often a plastic surgeon or oral surgeon) manages the repair of the cleft lip and palate [6][7].
  • Ophthalmologist (Cornea Specialist): You need an eye doctor who understands more than just vision. They must specifically look for meibomian gland deficiency (oil-producing glands) and limbal stem cell deficiency (the cells that keep the eye clear) [8][9][10].
  • Urologist: Every person with EEC should see a urologist for a renal ultrasound to screen for “silent” issues like hydronephrosis (kidney swelling) or megaureter [11][3][12].
  • Dentist/Prosthodontist/Orthodontist: Because missing or small teeth are common, these specialists help with early dental bridges, alveolar bone grafting, and eventual permanent implants [13][14][15].
  • Mental Health Professional: Managing a chronic condition with visible differences takes a psychological toll. A therapist or counselor is a vital part of the team for self-esteem and emotional well-being.

Vetting Your Doctors

Since EEC is rare, many doctors may only have read about it in textbooks. It is entirely appropriate—and encouraged—to ask questions to make sure they are prepared to care for this specific condition.

  • For the Ophthalmologist: “Are you familiar with the risk of corneal scarring in EEC syndrome? Do you have the equipment, like infrared meibography, to check for missing oil glands in the eyelids?” [8][9]
  • For the Surgeon: “Before we schedule surgery, how will you coordinate with the urologist and anesthesiologist to ensure kidneys are healthy enough for the procedure, and that the patient won’t overheat or have airway complications in the operating room?” [11][12][16]
  • For the Geneticist: “Does this specific mutation in the DNA-binding domain give us any clues about what we should watch for more closely?” [17][18]

Your “New Patient” Toolkit and Organizing Records

When visiting a new specialist for the first time, having the right information ready will make the appointment much more productive. It is highly recommended to keep a dedicated medical binder or a secure digital cloud folder (like Google Drive or Dropbox) to easily share documents. Be sure to include:

  1. Genetic Test Results: The full molecular report showing the specific TP63 mutation [18][17].
  2. Renal Ultrasound Reports: Even if the results were “normal,” the specialist needs to see the actual imaging or report [3][11].
  3. Surgical History: A list of all past procedures, dates, airway challenges, and any complications with anesthesia [3].
  4. Specialist Roster: The contact information for all other doctors on the team [1].

The Role of a Care Coordinator

Keeping track of five or more specialists can be a full-time job. Many hospitals or insurance plans offer care coordination or case management services. These professionals can help schedule appointments, share records between doctors, and ensure that everyone is on the same page [1][19].

Common questions in this guide

What specialists are needed for an EEC syndrome care team?
A multidisciplinary team is essential, typically including a geneticist, craniofacial surgeon, cornea specialist, urologist, specialized dental professionals, and a mental health counselor.
Why do patients with EEC syndrome need to see a urologist?
Routine renal ultrasounds are crucial to screen for silent kidney and urinary tract issues, such as hydronephrosis or a megaureter, which can occur without immediate symptoms.
What specific eye problems should an ophthalmologist look for?
An eye specialist must check for missing oil-producing glands (meibomian gland deficiency) and limbal stem cell deficiency, both of which can lead to severe corneal scarring if left untreated.
What medical records should I bring to a new specialist?
You should bring your genetic test results showing the TP63 mutation, recent renal ultrasound reports, a complete surgical history with any anesthesia complications, and contact information for your other doctors.
How can a care coordinator help manage EEC syndrome?
A care coordinator or case manager helps schedule appointments, share medical records between various specialists, and ensures your entire medical team is communicating effectively to provide safe, unified care.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many patients with TP63-related disorders or EEC syndrome have you treated in your career?
  2. 2.Are you willing to coordinate with other specialists to ensure a unified treatment plan, especially before scheduled surgeries?
  3. 3.For the ophthalmologist: How do you specifically screen for limbal stem cell deficiency and meibomian gland absence?
  4. 4.For the urologist: Based on the renal ultrasound, what is the specific risk for hydronephrosis or bladder dysfunction?
  5. 5.For the dentist: What is your timeline for starting prosthetic rehabilitation and eventual implants?

Questions For You

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References

References (19)
  1. 1

    A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

    Jin JY, Zeng L, Li K, et al.

    The journal of gene medicine 2019; (21(10)):e3122 doi:10.1002/jgm.3122.

    PMID: 31420900
  2. 2

    A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

    Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ

    European journal of medical genetics 2024; (68()):104911 doi:10.1016/j.ejmg.2024.104911.

    PMID: 38281558
  3. 3

    Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

    Mohamed RH, Khalifa HM, Hassan HY, et al.

    Cureus 2025; (17(9)):e92888 doi:10.7759/cureus.92888.

    PMID: 41141084
  4. 4

    A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.

    Corona-Rivera JR, Rios-Flores IM, Zenteno JC, et al.

    Molecular syndromology 2024; (15(1)):51-57 doi:10.1159/000531934.

    PMID: 38357259
  5. 5

    Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review.

    Savukyne E, Machtejeviene E, Bajeruniene K, Asmoniene V

    Case reports in perinatal medicine 2022; (11(1)):20210076 doi:10.1515/crpm-2021-0076.

    PMID: 40041233
  6. 6

    Two case reports with literature review of the EEC syndrome: Clinical presentation and management.

    Augello M, Berg BI, Albert Müller A, Schwenzer-Zimmerer K

    Case reports in plastic surgery & hand surgery 2015; (2(3-4)):63-6 doi:10.3109/23320885.2015.1086273.

    PMID: 27252974
  7. 7

    Naso-alveolar Asymmetry in Unilateral Cleft Lip and Palate Patients-CT Analysis of the Paranasal Region.

    Phua Y, Hessenauer M

    The Journal of craniofacial surgery 2025; (36(3)):e303-e308 doi:10.1097/SCS.0000000000010934.

    PMID: 39591384
  8. 8

    Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome.

    Garza-Leon M, León-Cachón RBR, Villafuerte-de la Cruz R, Martínez-Treviño DA

    Archivos de la Sociedad Espanola de Oftalmologia 2018; (93(11)):562-566 doi:10.1016/j.oftal.2018.06.005.

    PMID: 30025988
  9. 9

    Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report.

    Mohd Jais MF, Wan Dien T, Ang WJ, et al.

    Cureus 2023; (15(3)):e36086 doi:10.7759/cureus.36086.

    PMID: 37065317
  10. 10

    Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.

    Barbaro V, Bonelli F, Ferrari S, et al.

    Cells 2023; (12(3)) doi:10.3390/cells12030495.

    PMID: 36766837
  11. 11

    Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

    Hyder Z, Beale V, O'Connor R, Clayton-Smith J

    Clinical dysmorphology 2017; (26(2)):78-82 doi:10.1097/MCD.0000000000000172.

    PMID: 28166087
  12. 12

    Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.

    Biwei H, Min S, Yanlin W, et al.

    Frontiers in genetics 2022; (13()):1002089 doi:10.3389/fgene.2022.1002089.

    PMID: 36386837
  13. 13

    [Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment].

    Lin L, Li P, Zhao W

    Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology 2025; (43(4)):478-485 doi:10.7518/hxkq.2025.2025173.

    PMID: 40899200
  14. 14

    Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.

    Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, et al.

    Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2023; (43(2)):152-162 doi:10.1111/scd.12752.

    PMID: 35879828
  15. 15

    Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

    Rachmiel A, Turgeman S, Emodi O, et al.

    Plastic and reconstructive surgery. Global open 2018; (6(2)):e1678 doi:10.1097/GOX.0000000000001678.

    PMID: 29616174
  16. 16

    Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.

    Graversen L, Sommerlund M, Kruse C, et al.

    European journal of medical genetics 2024; (72()):104982 doi:10.1016/j.ejmg.2024.104982.

    PMID: 39476951
  17. 17

    TP63-related disorders: two case reports and a brief review of the literature.

    Nanda A, AlLafi A, Wolf S, et al.

    Dermatology online journal 2021; (27(11)) doi:10.5070/D3271156088.

    PMID: 35130400
  18. 18

    [Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome].

    Bartalis K, Kálmán B, Kisely M

    Orvosi hetilap 2023; (164(46)):1831-1837 doi:10.1556/650.2023.32913.

    PMID: 37980600
  19. 19

    MOLECULAR GENETICS OF CLEFT LIP AND PALATE: A REVIEW.

    Oboli GO, Chukwuma DI, Fagbule OF, et al.

    Annals of Ibadan postgraduate medicine 2020; (18(1)):S16-S21.

    PMID: 33071691

This guide to building an EEC syndrome care team is for informational purposes only. Always consult your primary care physician to coordinate referrals to appropriate specialists for your specific needs.

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