Research & Literature

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.

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Elalaoui SC, Laarabi FZ, Mansouri M, et al.

American journal of medical genetics. Part A 2016; (170(9)):2462-5 doi:10.1002/ajmg.a.37839.

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.

Aubert G, Strauss KA, Lansdorp PM, Rider NL

The Journal of allergy and clinical immunology 2017; (140(4)):1120-1129.e1 doi:10.1016/j.jaci.2016.11.051.

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.

Steinbusch MMF, Caron MMJ, Surtel DAM, et al.

Scientific reports 2017; (7(1)):6440 doi:10.1038/s41598-017-06809-5.

Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.

Holopainen E, Vakkilainen S, Mäkitie O

Journal of pediatric and adolescent gynecology 2018; (31(4)):422-425 doi:10.1016/j.jpag.2018.02.128.

Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia.

Nguyen A, Martin Silva N, de Boysson H, et al.

Swiss medical weekly 2018; (148()):w14606.

Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.

Al Kaissi A, Ghachem MB, Nabil NM, et al.

Orthopaedic surgery 2018; (10(3)):241-246 doi:10.1111/os.12382.

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.

Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.

Holopainen E, Vakkilainen S, Mäkitie O

American journal of medical genetics. Part A 2019; (179(2)):190-195 doi:10.1002/ajmg.a.60684.

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.

'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.

Vakkilainen S, Costantini A, Taskinen M, et al.

Journal of medical genetics 2020; (57(1)):18-22 doi:10.1136/jmedgenet-2019-106131.

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.

Vakkilainen S, Skoog T, Einarsdottir E, et al.

Scientific reports 2019; (9(1)):13758 doi:10.1038/s41598-019-50334-6.

[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.

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.

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.

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.

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.

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study.

Holopainen E, Vakkilainen S, Mäkitie O

Orphanet journal of rare diseases 2020; (15(1)):326 doi:10.1186/s13023-020-01614-2.

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.

Vakkilainen S, Klemetti P, Martelius T, et al.

Journal of clinical immunology 2021; (41(5)):1064-1071 doi:10.1007/s10875-021-01007-5.

Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts.

Chabronova A, van den Akker GGH, Meekels-Steinbusch MMF, et al.

Non-coding RNA research 2021; (6(4)):211-224 doi:10.1016/j.ncrna.2021.12.003.

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.

Robertson N, Shchepachev V, Wright D, et al.

Nature communications 2022; (13(1)):649 doi:10.1038/s41467-022-28295-8.

A novel experimental approach for the selective isolation and characterization of human RNase MRP.

Derksen M, Mertens V, Visser EA, et al.

RNA biology 2022; (19(1)):305-312 doi:10.1080/15476286.2022.2027659.

Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.

Gamliel A, Lee YN, Lev A, et al.

Journal of investigational allergology & clinical immunology 2023; (33(4)):263-270 doi:10.18176/jiaci.0792.

Long-term functional outcomes of patients with Hirschsprung disease following pull-through.

Gunadi , Monica Carissa T, Stevie , et al.

BMC pediatrics 2022; (22(1)):246 doi:10.1186/s12887-022-03301-6.

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Del Borrello G, Miano M, Micalizzi C, et al.

Frontiers in immunology 2022; (13()):893000 doi:10.3389/fimmu.2022.893000.

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.

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.

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.

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Uchida N, Ishii T, Nishimura G, et al.

American journal of medical genetics. Part A 2024; (194(6)):e63562 doi:10.1002/ajmg.a.63562.

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.

Park JH, Im M, Kim YJ, et al.

Medicine 2024; (103(21)):e37247 doi:10.1097/MD.0000000000037247.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Gomes ME, Kehdy F, de Neves-Manta FS, et al.

Scientific reports 2024; (14(1)):13436 doi:10.1038/s41598-024-64407-8.

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.

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)).

Refractory/Relapsed Hodgkin Lymphoma in Cartilage Hair Hypoplasia-Anauxetic Dysplasia Spectrum: Long-term HSCT-free Remission in 2 Pediatric Siblings.

Bukhari SI, Yazdani S, Fadoo Z

Journal of pediatric hematology/oncology 2026; (48(2)):e91-e96 doi:10.1097/MPH.0000000000003158.

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Lin S, Chen Q, Qi Y, et al.

Medicine 2026; (105(2)):e47005 doi:10.1097/MD.0000000000047005.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Insalaco A, Rossi C, Bertucci E, et al.

European journal of medical genetics 2026; (80()):105069 doi:10.1016/j.ejmg.2026.105069.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Portela Carvalho C, Martins A, Alves I, Guedes-Martins L

BMJ case reports 2026; (19(2)) doi:10.1136/bcr-2025-267490.