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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Medical Genetics

How to Prepare for a CHH Specialist Appointment

At a Glance

To prepare for a Cartilage-Hair Hypoplasia (CHH) specialist appointment, gather your child's genetic testing reports (RMRP gene), newborn screening results (TREC levels), immune blood panels, and growth charts. Organizing these records helps the team tailor a safe, effective care plan.

In this answer

2 sections

01

The Essential Document Checklist

02

Additional Medical History to Include

Preparing for your first appointment at a skeletal dysplasia center for Cartilage-hair hypoplasia (CHH) can feel overwhelming, but gathering your child’s medical history is a powerful step in securing the best possible care. Because CHH affects multiple systems in the body—not just bone development—providing a comprehensive overview allows the specialist team to accurately assess your child’s needs and create a tailored, multidisciplinary plan [1].

The Essential Document Checklist

When organizing your records for the intake appointment, try to gather physical copies or confirmed electronic transfers of the following documents, if they have been performed. Do not panic if you are missing some of these; your specialist can order them if needed. (Tip: You can usually ask your pediatrician’s office to print these out or sign a Release of Information form to have them sent directly to the center.)

  • Official Genetic Testing Reports: If your child has had genetic testing, bring the exact lab report showing the RMRP gene mutation [2][3]. This is the standard method for confirming CHH, and the specific genetic variant helps your care team understand your child’s unique presentation [4].
  • Newborn Screening Results (TREC Levels): If available from your state or country’s newborn screening program, request the results from your child’s newborn blood spot screen—specifically looking for T-cell receptor excision circle (TREC) levels [5]. TREC levels help indicate how well the immune system is producing T-cells, which allows doctors to proactively monitor and support your child’s immune health [6][7].
  • Immune Blood Panels: Include any prior blood work checking immune function, particularly T-cell counts and red blood cell parameters [6][8]. Because immune function in CHH ranges from perfectly fine to more vulnerable, establishing a baseline from past labs helps specialists know exactly how to protect your child [7][1].
  • Detailed Growth Charts and Imaging: Bring all historical pediatrician growth charts and any prior skeletal X-rays or ultrasounds [9][10]. CHH involves metaphyseal chondrodysplasia—a variation in the growing ends of bones that causes short stature—so a mapped history of your child’s growth trajectory and prior imaging is incredibly helpful for the orthopedic evaluation [4][11].
  • History of Infections and Hospital Records: Compile a written log of past illnesses, especially if they were unusually prolonged or required hospitalization. If your child was admitted for conditions like pneumonia, bring the actual hospital discharge summaries [8][12]. Also note any unusual reactions to common viruses, like chickenpox or warts, so the team can provide the safest guidelines for viral exposure [13][14].

Additional Medical History to Include

Because CHH requires management from different types of doctors, records outside of bone and immune health are also important [1]. Furthermore, while the condition is named for its skeletal and physical features (such as characteristically fine, sparse hair), treating the internal symptoms is equally crucial.

  • Gastrointestinal Records: Note any early bowel issues or severe constipation, especially if your child was ever evaluated for Hirschsprung disease (a condition affecting the large intestine) [15][16]. Sharing this helps ensure their digestive health is monitored comfortably.
  • Vaccination Records: Bring a complete, up-to-date immunization record. Because of the variable immune function in CHH, specialists will carefully review your child’s immune status to determine the safest schedule for live viral vaccines [17][6].
  • Hematology Notes: If your child has ever been evaluated for anemia or low blood counts, bring those clinical notes so the team can monitor their blood health safely over time [13][18].

Taking the time to organize these specific records ensures the skeletal dysplasia team can immediately focus on the next steps for your child’s care.

Common questions in this guide

What is the Long-Term Prognosis for Adults with CHH?When Does Cancer Risk Start in Cartilage-Hair Hypoplasia?Will My Child Need Surgery for Bowed Legs in CHH?Will My Child's Hair Grow in Cartilage-Hair Hypoplasia?What is the Life Expectancy for Cartilage-Hair Hypoplasia?How Does Cartilage-Hair Hypoplasia Affect Teeth & Gums?CHH vs. Achondroplasia: What Is The Difference?MDWH vs. Cartilage-Hair Hypoplasia: What's the Difference?How Does EBV Cause Lymphoma in CHH?Is Growth Hormone Safe for Cartilage-Hair Hypoplasia?Hirschsprung Disease Symptoms in CHH: What to Watch ForWhy Does CHH Cause Macrocytic Anemia and How Is It Treated?Does Cartilage-Hair Hypoplasia Affect Male Fertility?How Does Cartilage-Hair Hypoplasia Affect Pregnancy?What Immune Support Is Needed for CHH?Does Cartilage-Hair Hypoplasia (CHH) Delay Puberty?When Is a Stem Cell Transplant Needed for CHH?Can Babies with Cartilage-Hair Hypoplasia Get Vaccines?Why is CHH Common in Amish & Finnish Populations?
What medical records should I bring to a cartilage-hair hypoplasia appointment?
You should bring official genetic testing reports showing the RMRP gene mutation, newborn screening results, immune blood panels, historical growth charts, past skeletal imaging, and a detailed log of past infections.
Why are newborn screening results important for a CHH appointment?
Newborn screening results, specifically TREC levels, help indicate how well your child's immune system is producing T-cells. Providing these results establishes a baseline that allows doctors to proactively monitor and support their immune health.
Why does my child's CHH doctor need to see gastrointestinal records?
Cartilage-hair hypoplasia can sometimes be associated with early bowel issues, such as Hirschsprung disease. Sharing your child's gastrointestinal history helps the specialist team monitor their digestive health and ensure any related issues are addressed comfortably.
Should I bring my child's vaccination records to the CHH clinic?
Yes, a complete immunization record is crucial. Because CHH can cause variable immune function, specialists must carefully review your child's immune status to determine the safest schedule for administering live viral vaccines.

Questions for Your Doctor

5 questions

  • •Based on my child's current genetic report and immune labs, what specific specialists (like an immunologist or gastroenterologist) should be part of our core care team?
  • •Given our history of infections, do we need to alter our current vaccination schedule, particularly for live vaccines?
  • •How frequently will we need to update growth charts and skeletal X-rays to properly monitor the metaphyseal dysplasia?
  • •What specific signs or symptoms should prompt us to call the clinic between our regular scheduled visits?
  • •Are there any additional baseline blood tests or immune panels you recommend ordering today since some of our previous records are incomplete?

Questions for You

4 questions

  • •What specific infections or illnesses has my child had that took longer than usual to clear, or required a hospital visit?
  • •Have we noticed any early gastrointestinal issues, such as severe constipation, that we should flag for the doctor?
  • •Are all of my child's past X-rays and imaging files saved on a disk, or do I need to call the imaging center to request physical copies?
  • •Has my child experienced any unusual reactions to routine vaccinations or common childhood viruses in the past?

References

References (18)
  1. 1

    Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.

    Vakkilainen S, Taskinen M, Mäkitie O

    Scandinavian journal of immunology 2020; (92(4)):e12913 doi:10.1111/sji.12913.

    PMID: 32506568
  2. 2

    Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis.

    Sathishkumar D, Gach JE, Ogboli M, et al.

    Clinical and experimental dermatology 2018; (43(6)):713-717 doi:10.1111/ced.13543.

    PMID: 29744913
  3. 3

    Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

    Gomes ME, Calatrava Paternostro L, Moura VR, et al.

    Molecular syndromology 2020; (10(5)):255-263 doi:10.1159/000501892.

    PMID: 32021596
  4. 4

    RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.

    Gao J, Zheng J, Chen S, et al.

    Molecular medicine reports 2025; (31(3)).

    PMID: 39886981
  5. 5

    Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

    Scott EM, Chandra S, Li J, et al.

    Journal of clinical immunology 2020; (40(2)):321-328 doi:10.1007/s10875-019-00739-9.

    PMID: 31903518
  6. 6

    [Cartilage-hair hypoplasia. A case report].

    Staines-Boones TA, González-Villarreal MG, Hernández-Fernández C

    Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2019; (66(3)):379-383 doi:10.29262/ram.v66i3.561.

    PMID: 31606024
  7. 7

    A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

    Vakkilainen S, Taskinen M, Klemetti P, et al.

    Frontiers in immunology 2019; (10()):1581 doi:10.3389/fimmu.2019.01581.

    PMID: 31379817
  8. 8

    A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.

    Vakkilainen S, Mäkitie R, Klemetti P, et al.

    Frontiers in immunology 2018; (9()):2468 doi:10.3389/fimmu.2018.02468.

    PMID: 30410491
  9. 9

    Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

    Hall CM, Liu B, Haworth A, et al.

    European journal of medical genetics 2021; (64(3)):104162 doi:10.1016/j.ejmg.2021.104162.

    PMID: 33567347
  10. 10

    The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

    Iqbal M, Muhammad N, Ali SA, et al.

    Clinical dysmorphology 2017; (26(2)):121-123 doi:10.1097/MCD.0000000000000155.

    PMID: 27740950
  11. 11

    Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study.

    Arponen H, Vakkilainen S, Rautava J, Mäkitie O

    Orphanet journal of rare diseases 2023; (18(1)):147 doi:10.1186/s13023-023-02758-7.

    PMID: 37308912
  12. 12

    Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.

    Pello E, Kainulainen L, Vakkilainen M, et al.

    The journal of allergy and clinical immunology. Global 2024; (3(1)):100190 doi:10.1016/j.jacig.2023.100190.

    PMID: 38187867
  13. 13

    Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.

    Kukkola HL, Utriainen P, Huttunen P, et al.

    Frontiers in immunology 2022; (13()):1004694 doi:10.3389/fimmu.2022.1004694.

    PMID: 36211439
  14. 14

    Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

    Holopainen E, Vakkilainen S, Mäkitie O

    Orphanet journal of rare diseases 2018; (13(1)):207 doi:10.1186/s13023-018-0945-9.

    PMID: 30445974
  15. 15

    Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

    Yasui Y, Kohno M, Nishida S, et al.

    Congenital anomalies 2017; (57(1)):32-34 doi:10.1111/cga.12175.

    PMID: 27270827
  16. 16

    Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia.

    Fitch T, Bleesing J, Marsh RA, Chandra S

    Journal of clinical immunology 2022; (42(8)):1604-1607 doi:10.1007/s10875-022-01332-3.

    PMID: 35840850
  17. 17

    The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.

    Vakkilainen S, Kleino I, Honkanen J, et al.

    Frontiers in immunology 2020; (11()):2020 doi:10.3389/fimmu.2020.02020.

    PMID: 32849667
  18. 18

    Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.

    Lewandowska N, Ordak M

    Laboratory medicine 2025; (56(3)):213-219 doi:10.1093/labmed/lmae082.

    PMID: 39321258

This checklist is for informational purposes to help you prepare for a Cartilage-Hair Hypoplasia specialist visit and does not replace professional medical advice from your child's healthcare team.

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