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

Building Your Care Team and Navigating the Journey

At a Glance

Building a medical team for Mulibrey nanism requires coordinating specialists like a geneticist, pediatric cardiologist, endocrinologist, and oncologist. Proactive care involves routine tumor screenings every 3-4 months, close heart monitoring, and planning for adult care transitions.

Managing a rare condition like Mulibrey nanism is not a sprint; it is a marathon that requires a dedicated “pit crew” of experts [1][2]. While the journey may feel overwhelming, building a strong multidisciplinary team and establishing a routine can help transform a scary diagnosis into a manageable path forward [3][4].

Assembling Your Expert Team

Because Mulibrey nanism affects so many different systems, your child will need several specialists working in harmony [1][4]. The “Core Four” usually includes:

  • Medical Geneticist: Often the “team captain” who confirms the diagnosis and helps explain how the TRIM37 gene affects the body [2][5].
  • Pediatric Cardiologist: Essential for monitoring the “stiff heart” issues (constriction and restriction) that are the primary focus of long-term health [6][7][8].
  • Pediatric Endocrinologist: Manages growth strategies, monitors for Type 2 Diabetes, and supports reproductive health as your child matures [9][5].
  • Pediatric Oncologist or Radiologist: Sets and maintains the proactive “every 3-4 months” ultrasound schedule to screen for Wilms tumor and other growths [3][10].

You may also eventually include a Hepatologist (liver specialist) to monitor fatty liver or fibrosis and a Pediatric Gynecologist for girls to manage reproductive health [11][9][12]. And as noted previously, a Pediatric Cardiac Anesthesiologist must be consulted anytime your child needs sedation.

Managing “Scan Anxiety”

Waiting for results from regular heart or tumor screenings—often called “scanxiety”—is one of the most difficult parts of being a rare disease parent [13]. To help manage this stress:

  • Seek Rapid Results: Ask your medical team if you can schedule a “same-day” follow-up or a phone call immediately after the scan to discuss findings [13].
  • Standardize the Experience: For your child, keep the scan day routine consistent. Brief educational preparation and stress-reduction techniques (like listening to music or a favorite audiobook during the scan) can reduce anticipatory anxiety [14][13][15].
  • Focus on the Goal: Remind yourself that these scans are a tool of empowerment. Catching something early is the most effective way to protect your child’s future [3][16].

The Long-Term Perspective

As your child grows, their needs will shift. Early on, the focus is heavily on growth and heart function; as they become adults, the focus expands to include metabolic health (like diabetes and blood pressure) and reproductive health [6][5].

  • Caregiver Self-Care: Research shows that parents who practice self-compassion and seek out social support experience less caregiver burden and higher resilience [17][18]. Your mental health is a vital part of your child’s care plan [19].
  • Transitioning to Adulthood: Successful management of Mulibrey nanism continues into adult life. Work with your pediatric team early to identify adult specialists—particularly cardiologists and endocrinologists—who are willing to learn about this rare condition [6][5][4].

You are not alone in this. While the condition is rare, the network of researchers and families is growing. By acting as the central coordinator for your child’s team, you are ensuring they receive the specialized, proactive care they deserve [1][3].

Common questions in this guide

Which medical specialists are needed for a child with Mulibrey nanism?
Your child will need a multidisciplinary team. The core group usually includes a medical geneticist, a pediatric cardiologist to monitor heart function, a pediatric endocrinologist for growth and metabolic health, and an oncologist or radiologist for routine tumor screenings.
How often does a child with Mulibrey nanism need tumor screening?
Children with Mulibrey nanism typically require ultrasound screenings every 3 to 4 months. These proactive scans check for growths like Wilms tumor so they can be identified and managed early.
How can parents manage 'scanxiety' during routine testing?
To help manage scan anxiety, ask your medical team if you can receive same-day results or a phone call immediately after the imaging. Keeping the scan day routine consistent and using stress-reduction techniques can also help ease your and your child's worries.
What happens to Mulibrey nanism care when my child becomes an adult?
Successful management of Mulibrey nanism continues into adulthood, shifting focus toward metabolic, cardiac, and reproductive health. Work with your pediatric team early to identify adult specialists who are willing to learn about and manage this rare condition.
Who needs to be consulted if my child requires sedation for a scan?
It is critical to involve a pediatric cardiac anesthesiologist anytime a child with Mulibrey nanism needs sedation. This ensures their specific heart needs are safely managed during any procedure or scan.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Are you willing to collaborate with specialists at other institutions who may have more direct experience with Mulibrey nanism?
  2. 2.Who on your team will be the primary point of contact for coordinating my child's various appointments and records?
  3. 3.How do you handle 'scan anxiety' in your practice, and can we schedule results-review appointments immediately following imaging?
  4. 4.Can we create a shared care plan that both the cardiologist and hepatologist have reviewed and agreed upon?
  5. 5.What experience does your clinic have with transitioning patients from pediatric to adult specialized care?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (19)
  1. 1

    Mulibrey Nanism: A Case with Heart Failure.

    Temizhan AY, Çolakoğlu MN, Kara M, et al.

    Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2024; (52(6)):464-467 doi:10.5543/tkda.2023.95443.

    PMID: 39225643
  2. 2

    Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.

    Zeinaloo AA, Mirzaei Ilali H, Aghaei Moghadam E, et al.

    Iranian journal of public health 2022; (51(12)):2826-2830 doi:10.18502/ijph.v51i12.11474.

    PMID: 36742244
  3. 3

    Wilms tumor with Mulibrey Nanism: A case report and review of literature.

    Upasana K, Thakkar D, Gautam D, et al.

    Cancer reports (Hoboken, N.J.) 2022; (5(5)):e1512 doi:10.1002/cnr2.1512.

    PMID: 34309235
  4. 4

    Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition.

    Kreinbrook JA, Izzo L, Atkins C, Das S

    BMJ case reports 2024; (17(10)) doi:10.1136/bcr-2024-261443.

    PMID: 39448079
  5. 5

    TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.

    Brigant B, Metzinger-Le Meuth V, Rochette J, Metzinger L

    International journal of molecular sciences 2018; (20(1)) doi:10.3390/ijms20010067.

    PMID: 30586926
  6. 6

    The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report.

    Cordova Sanchez A, Vasigh M, Carhart R

    Journal of investigative medicine high impact case reports 2022; (10()):23247096221077816 doi:10.1177/23247096221077816.

    PMID: 35257621
  7. 7

    Mulibrey Nanism Syndrome: A Case for Heart Transplantation.

    Anwer M, Bin Mahmood SU, Stawiarski K, et al.

    The Annals of thoracic surgery 2020; (109(2)):e115-e117 doi:10.1016/j.athoracsur.2019.05.021.

    PMID: 31260650
  8. 8

    Pericardial Constriction and Myocardial Restriction in Pediatric Mulibrey Nanism: A Complex Disease With Diastolic Dysfunction.

    Sarkola T, Lipsanen-Nyman M, Jalanko H, Jokinen E

    CJC open 2022; (4(1)):28-36 doi:10.1016/j.cjco.2021.08.012.

    PMID: 35072025
  9. 9

    Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.

    Karlberg S, Tiitinen A, Alfthan H, Lipsanen-Nyman M

    Human reproduction (Oxford, England) 2018; (33(7)):1254-1261 doi:10.1093/humrep/dey103.

    PMID: 29860321
  10. 10

    Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

    Mozzillo E, Cozzolino C, Genesio R, et al.

    American journal of medical genetics. Part A 2016; (170(8)):2196-9 doi:10.1002/ajmg.a.37770.

    PMID: 27256967
  11. 11

    Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).

    Sivunen J, Karlberg S, Kivisaari R, et al.

    Liver international : official journal of the International Association for the Study of the Liver 2022; (42(6)):1369-1378 doi:10.1111/liv.15213.

    PMID: 35220664
  12. 12

    Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.

    Kettunen KM, Karikoski R, Hämäläinen RH, et al.

    Biology open 2016; (5(5)):584-95 doi:10.1242/bio.016246.

    PMID: 27044324
  13. 13

    Communication and Team Interactions to Improve Patient Experiences, Quality of Care, and Throughput in MRI.

    Ajam AA, Tahir S, Makary MS, et al.

    Topics in magnetic resonance imaging : TMRI 2020; (29(3)):131-134 doi:10.1097/RMR.0000000000000242.

    PMID: 32568975
  14. 14

    Preparing Children for Court: Effects of a Model Court Education Program on Children's Anticipatory Anxiety.

    Nathanson R, Saywitz KJ

    Behavioral sciences & the law 2015; (33(4)):459-75 doi:10.1002/bsl.2191.

    PMID: 26294383
  15. 15

    Comparing the effect of patients preferred music and Swedish massage on anticipatory anxiety in patients with burn injury: Randomized controlled clinical trial.

    Najafi Ghezeljeh T, Mohaddes Ardebili F

    Complementary therapies in clinical practice 2018; (32()):55-60 doi:10.1016/j.ctcp.2018.05.002.

    PMID: 30057058
  16. 16

    Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome.

    Davarpasand T, Sotoudeh Anvari M, Naderan M, et al.

    The journal of Tehran Heart Center 2016; (11(4)):187-191.

    PMID: 28496510
  17. 17

    Self-Compassion, Coping Strategies, and Caregiver Burden in Caregivers of People with Dementia.

    Lloyd J, Muers J, Patterson TG, Marczak M

    Clinical gerontologist 2019; (42(1)):47-59 doi:10.1080/07317115.2018.1461162.

    PMID: 29723129
  18. 18

    The moderated mediation effect of caregiving stress and social support in the relationship between behavioral and psychological symptoms of dementia and caregiver burden in Oman: a cross-sectional study.

    Al Ghammari A, Guo M, Al Sinawi H, et al.

    BMC geriatrics 2025; (26(1)):21 doi:10.1186/s12877-025-06677-z.

    PMID: 41272598
  19. 19

    Maternal Anxiety and Children's Laboratory Pain: The Mediating Role of Solicitousness.

    Evans S, Payne LA, Seidman L, et al.

    Children (Basel, Switzerland) 2016; (3(2)).

    PMID: 27417248

This guide to building a care team for Mulibrey nanism is for educational purposes only and does not replace professional medical advice. Always consult your child's primary geneticist and specialists for personalized care coordination.

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