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PubMed This is a summary of 12 peer-reviewed journal articles Updated
Primary Care

Building Your Care Team & Surveillance Schedule

At a Glance

Managing Nail-Patella Syndrome requires a multidisciplinary team, including a nephrologist, ophthalmologist, and orthopedist. Patients need annual screenings starting at birth to monitor for silent kidney issues and childhood eye exams for glaucoma, along with regular orthopedic checkups.

Because Nail-Patella Syndrome (NPS) affects multiple systems—bones, kidneys, and eyes—managing it effectively requires a “team captain” approach. Since NPS is rare, you may find that you are often the person teaching your everyday doctors about the condition. This page is designed to help you organize your team and ensure no part of your or your child’s health is overlooked.

Building Your Multidisciplinary Team

A multidisciplinary approach is the gold standard for NPS care [1]. Your team should ideally include the following specialists:

  • Primary Care Physician (PCP/Pediatrician): Acts as the coordinator for all care and manages general health.
  • Nephrologist (Kidney Specialist): Monitors for proteinuria and manages any kidney-protective medications [2].
  • Ophthalmologist (Eye Specialist): Performs specialized tests to monitor for glaucoma [3].
  • Orthopedist (Bone/Joint Specialist): Manages patellar instability and joint health [4].
  • Geneticist / Genetic Counselor: Helps interpret genetic test results and provides guidance on family planning [1][5].

Interviewing a New Specialist

When meeting a new doctor, it is okay to “interview” them. You might ask:

  • “Have you treated a patient with NPS before?”
  • “If not, are you willing to review the current medical literature on NPS to help manage my care?”
  • “How do you prefer to communicate with my other specialists?”

Your Surveillance Checklist

Early detection of complications is the most powerful tool in the NPS toolkit. Most complications, like kidney changes or glaucoma, are “silent” and don’t cause pain until they are advanced [3][2].

We recommend printing this checklist and handing it to your Primary Care Provider to ensure they order the correct routine screenings.

Frequency Target Area What to Check
Annual (Starting at Birth) Kidneys Blood Pressure and Urinalysis (checking for protein or blood) [2][6].
Annual (Starting in Childhood) Eyes Tonometry (eye pressure) and Gonioscopy (drainage angle) [3][7].
Periodic (During Growth) Skeletal Physical exam for knee stability and range of motion [8].
Symptom-Driven Various Eye exams if vision changes occur; orthopedic consults if pain or dislocations increase [9].

The NPS “Master Folder”

To empower your care team, keep a dedicated folder (digital or physical) with the following critical documents:

  1. Genetic Test Results: Specifically the document showing the LMX1B mutation. Because symptom severity cannot be predicted by the specific mutation, lifelong monitoring is mandatory for everyone regardless of which exact mutation they have [10].
  2. Baseline Lab Results: Your very first protein-to-creatinine ratio and blood pressure readings [2].
  3. Imaging: Copies of X-rays showing iliac horns, which confirm the diagnosis even if genetic tests are pending [4][11].
  4. Specialist Notes: Summaries from every ophthalmology and nephrology visit.

By staying organized and consistent with annual screenings, you ensure that any changes are caught early when they are most treatable. This proactive approach allows individuals with NPS to focus on living full, active lives [1][12].

Return to Home Page

Common questions in this guide

Which specialists should be on my Nail-Patella Syndrome care team?
A multidisciplinary NPS care team should include a primary care physician, a nephrologist for kidney health, an ophthalmologist for eye care, an orthopedist for joints, and a geneticist. Your primary care doctor generally acts as the coordinator for these specialists.
How often should someone with NPS have their kidneys checked?
Kidney screenings for Nail-Patella Syndrome should begin at birth and occur annually. This routine screening typically involves checking your blood pressure and running a urinalysis to look for signs of protein or blood in the urine.
When should eye screenings start for Nail-Patella Syndrome?
Annual eye screenings should begin in childhood to monitor for early signs of glaucoma. Because glaucoma is often 'silent', an ophthalmologist must perform specialized tests like tonometry to check eye pressure and gonioscopy to examine the drainage angle.
What documents should I keep in my NPS medical folder?
Keep a dedicated folder containing your genetic test results showing the LMX1B mutation, baseline kidney lab results, copies of X-rays showing iliac horns, and clinical notes from your specialists. This ensures all your doctors stay informed about your baseline health.
What should I ask a new specialist about managing my NPS care?
You should ask if they are comfortable managing a rare condition, if they are willing to read current medical literature on NPS, and how they prefer to communicate with the other members of your care team to ensure treatments do not conflict.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Are you comfortable managing a rare condition like NPS, or would you like me to share recent clinical consensus papers with you?
  2. 2.Can you coordinate with my child's other specialists to ensure our treatment plans (like medications for kidneys) don't affect other areas?
  3. 3.What specific markers in the annual urine test would trigger a referral to a nephrologist?
  4. 4.Do you have experience with other patients who have hereditary glaucoma or skeletal dysplasias?
  5. 5.How often should we repeat pelvic or joint X-rays as my child grows?

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 (12)
  1. 1

    Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12.

    Koëter S, Tigchelaar S, Bongers E

    Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA 2021; (29(3)):1006-1007 doi:10.1007/s00167-018-4911-9.

    PMID: 29594322
  2. 2

    Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

    Harita Y, Urae S, Akashio R, et al.

    European journal of human genetics : EJHG 2020; (28(10)):1414-1421 doi:10.1038/s41431-020-0655-3.

    PMID: 32457516
  3. 3

    Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature.

    Pallozzi Lavorante N, Iester M, Bonzano C, et al.

    Case reports in ophthalmology 2022; (13(3)):984-990 doi:10.1159/000527234.

    PMID: 36605036
  4. 4

    Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome.

    Ishibashi T, Tomita T, Tamaki M, et al.

    Arthroplasty today 2023; (20()):101099 doi:10.1016/j.artd.2023.101099.

    PMID: 36793587
  5. 5

    [Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].

    Cui Y, Liu J, Gu M, et al.

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(11)):1257-1260 doi:10.3760/cma.j.cn511374-20191218-00645.

    PMID: 33179234
  6. 6

    Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

    Lei L, Oh G, Sutherland S, et al.

    Pediatric nephrology (Berlin, Germany) 2020; (35(9)):1647-1657 doi:10.1007/s00467-020-04564-w.

    PMID: 32356190
  7. 7

    Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.

    Gardin MA, Khor CC, Silva L, et al.

    American journal of ophthalmology case reports 2020; (20()):100886 doi:10.1016/j.ajoc.2020.100886.

    PMID: 32954044
  8. 8

    Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.

    Gong Y, Yang C, Liu Y, et al.

    Experimental and therapeutic medicine 2016; (11(6)):2361-2364 doi:10.3892/etm.2016.3180.

    PMID: 27284321
  9. 9

    Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.

    Serrano AF, Serrano PM

    International medical case reports journal 2021; (14()):871-876 doi:10.2147/IMCRJ.S345262.

    PMID: 35002335
  10. 10

    Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.

    Lindelöf H, Horemuzova E, Voss U, et al.

    Frontiers in endocrinology 2022; (13()):862908 doi:10.3389/fendo.2022.862908.

    PMID: 35769074
  11. 11

    Management of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report.

    Grossi J, Garber L, Olexa M, et al.

    Cureus 2025; (17(2)):e79461 doi:10.7759/cureus.79461.

    PMID: 40130127
  12. 12

    Nail-patella syndrome: clinical clues for making the diagnosis.

    Price A, Cervantes J, Lindsey S, et al.

    Cutis 2018; (101(2)):126-129.

    PMID: 29554154

This page provides general guidelines for assembling a Nail-Patella Syndrome care team and screening schedule. Always consult your primary care doctor to tailor these recommendations to you or your child's specific medical needs.

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