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PubMed This is a summary of 13 peer-reviewed journal articles Updated
Pediatrics

Care Coordination and Long-Term Monitoring

At a Glance

Children with Johanson-Blizzard syndrome need individualized, coordinated follow-up rather than one fixed schedule. A pediatric care coordinator can connect specialists and help monitor growth, nutrition, digestion, thyroid health, hearing, development, kidneys, teeth, and vision.

Because Johanson-Blizzard Syndrome (JBS) is rare and highly variable, your child’s care requires a “medical home”—a centralized team of specialists who work together [1][2]. Rather than a rigid checklist, your child’s monitoring plan will be tailored to their specific symptoms and needs [1][3].

Your Multidisciplinary Care Team

Building a team familiar with multisystem disorders is essential. This team typically includes:

  • Pediatrician/Care Coordinator: The “hub” who oversees overall health and ensures information is shared [1].
  • Medical Geneticist: Explains inheritance and provides guidance on the expected course [4][5].
  • Pediatric Gastroenterologist & Dietitian: Manages pancreatic enzymes (PERT) and monitors nutrition [4][6].
  • Pediatric Endocrinologist: Monitors for signs of thyroid issues [4][7].
  • Audiologist & ENT: Manages hearing loss, hearing aids, or cochlear implant evaluations [8][9].
  • Pediatric Dentist: Monitors and treats dental anomalies like hypodontia.
  • Developmental Pediatrician: Coordinates early intervention services like physical and speech therapy [4][9].
  • Specialized Surgeons: If needed, pediatric surgeons (urology, colorectal, or craniofacial) may be involved to address specific congenital malformations [10][4].

Long-Term Surveillance Discussion Framework

The following areas represent domains to discuss with your team. This is not an official schedule; frequency depends heavily on your child’s age, symptoms, prior results, and local specialist guidance.

  • Growth & Nutrition: Weight, height, head circumference, and levels of fat-soluble vitamins (only as indicated by labs) [1][6].
  • Digestive Health: Clinical response to enzymes, stool consistency, and weight gain [11][4].
  • Endocrine Health: Thyroid function (TSH/T4) and, if symptoms suggest it, blood glucose [4][7].
  • Hearing & Communication: Formal audiology testing and assessment of hearing technology and language progress [8][9].
  • Renal/Urogenital: Kidney function and blood pressure, typically driven by early ultrasound findings [10][5].
  • Development: Motor skills, speech-language progress, and social development [4][12].
  • Dental & Vision: Routine preventive dental care and ophthalmology reviews as clinically indicated.

Preparing for Specialist Visits

Navigating a rare disease means you will often have to act as the primary historian for your child’s health.

Bring to the Next Appointment:

  • The Rare Disease Binder: A folder containing your child’s full genetic report, recent lab results, and growth charts [1][13].
  • Current Medication List: Include the specific enzyme product name, lipase dose, and any prescribed vitamin formulations.
  • Symptom Log: A brief record of feeding volumes, stool consistency, and any new physical features or milestones reached.
  • Your Top Concerns: Write down your questions ahead of time. When meeting a new specialist, don’t be afraid to ask how they approach rare conditions and if they are willing to consult with other experts [1].

Common questions in this guide

Which specialists care for a child with Johanson-Blizzard syndrome?
Care often includes a pediatrician or care coordinator, medical geneticist, pediatric gastroenterologist and dietitian, endocrinologist, audiologist or ear, nose, and throat specialist, dentist, and developmental pediatrician. Surgeons, eye specialists, or other clinicians may join when a child’s specific findings require them.
Is there one standard monitoring schedule for children with JBS?
No. Follow-up is individualized according to the child’s age, symptoms, previous results, and guidance from the specialist team. Visits may address growth, nutrition, digestion, thyroid health, hearing, development, kidney health, dental care, or vision as appropriate.
What should I bring to a JBS specialist appointment?
Bring the child’s genetic test report, recent laboratory results, growth charts, and a current medication list. Include the enzyme product and dose, prescribed vitamins, a brief log of feeding and stools, new physical features or milestones, and your main questions.
Who should coordinate care for a child with JBS?
A pediatrician or designated care coordinator can serve as the central contact, helping specialists share information and keeping the care plan organized. The family should confirm who has this role and how updates will be communicated.
What health checks may be part of long-term JBS follow-up?
Depending on the child’s needs, the team may track height, weight, head growth, nutrition, response to pancreatic enzymes, stool changes, thyroid blood tests, blood sugar when symptoms suggest it, hearing, development, kidney function, blood pressure, teeth, and vision. The timing of each check should be set by the child’s clinicians rather than copied from a universal schedule.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who will serve as the lead care coordinator to ensure all specialists are communicating?
  2. 2.Based on my child's specific symptoms, what is the recommended frequency for thyroid screening?
  3. 3.Do you have experience treating other children with rare genetic syndromes?
  4. 4.What specific laboratory results (like vitamin levels) are we tracking today?
  5. 5.When should my child have their first comprehensive dental and vision exams?

References

References (13)
  1. 1

    Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

    Abukammas SJ, Abdelgalil A, Shazly MA, et al.

    Cureus 2026; (18(2)):e103579 doi:10.7759/cureus.103579.

    PMID: 41846647
  2. 2

    Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

    Thompson AS, Giri N, Gianferante DM, et al.

    Pediatric research 2022; (92(6)):1671-1680 doi:10.1038/s41390-022-02009-8.

    PMID: 35322185
  3. 3

    Johanson-Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients.

    Noli K, Aleysae N, Alzahrani I, et al.

    JPGN reports 2024; (5(2)):140-147 doi:10.1002/jpr3.12057.

    PMID: 38756130
  4. 4

    Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

    Isa HM, Khudhair ZA, Abdulla KM, et al.

    Cureus 2024; (16(3)):e55969 doi:10.7759/cureus.55969.

    PMID: 38606259
  5. 5

    Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

    Liu S, Wang Z, Jiang J, et al.

    Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020; (20(3)):562-568 doi:10.1016/j.pan.2020.01.007.

    PMID: 31980351
  6. 6

    Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

    Sankararaman S, Schindler T

    Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.

    PMID: 37908317
  7. 7

    Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

    Wang X, Li F, Zhao W

    Journal of healthcare engineering 2022; (2022()):7414165 doi:10.1155/2022/7414165.

    PMID: 35222891
  8. 8

    Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.

    Holcomb MA, Rizk HG, Morris NS, Meyer TA

    International journal of pediatric otorhinolaryngology 2017; (95()):69-71 doi:10.1016/j.ijporl.2017.02.001.

    PMID: 28576536
  9. 9

    Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.

    Raza AF, Paudel DR, Nisha KV

    Journal of audiology & otology 2022; (26(3)):160-165 doi:10.7874/jao.2021.00444.

    PMID: 34775698
  10. 10

    Johanson-Blizzard syndrome with associated urogenital anomalies.

    Sood A, Jamzadeh A, Chowdhury M, Lakshmanan Y

    BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225336.

    PMID: 30097546
  11. 11

    Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center.

    Ye Z, Zhou Y, Huang Y, et al.

    Pancreas 2018; (47(10)):1344-1349 doi:10.1097/MPA.0000000000001185.

    PMID: 30308536
  12. 12

    Performance of Children With Johanson-Blizzard Syndrome After Cochlear Implantation.

    Alwadee RM, Alyousef MY, Yousef EM, Yousef MF

    Cureus 2021; (13(11)):e19264 doi:10.7759/cureus.19264.

    PMID: 34760428
  13. 13

    Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

    Sukalo M, Schäflein E, Schanze I, et al.

    Molecular genetics & genomic medicine 2017; (5(6)):774-780 doi:10.1002/mgg3.319.

    PMID: 29178640

This page is for informational purposes only and does not constitute medical advice about your child's Johanson-Blizzard syndrome. Your child's specialist team should set the monitoring schedule and interpret results based on individual needs.