• Ju Heon Park, Minji Im, Yae-Jean Kim, Ja-Hyun Jang, Sae-Mi Lee, Min-Sun Kim, and Sung Yoon Cho.
• Department of Medicine, Sungkyunkwan University School of Medicine, Seoul, Korea.
• Medicine (Baltimore). 2024 May 24; 103 (21): e37247e37247.

RationaleCartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.Patient ConcernsHere, we report 2 cases of Korean children with CHH-AD.DiagnosesIn the first case, the patient had metaphyseal dysplasia without hypotrichosis, diagnosed by whole exome sequencing (WES), and exhibited only skeletal dysplasia and lacked extraskeletal manifestations, such as hair hypoplasia and immunodeficiency. In the second case, the patient had skeletal dysplasia, hair hypoplasia, and immunodeficiency, which were identified by WES.InterventionsThe second case is the first CHH reported in Korea. The patients in both cases received regular immune and lung function checkups.OutcomesOur cases suggest that children with extremely short stature from birth, with or without extraskeletal manifestations, should include CHH-AD as a differential diagnosis.Lessons SubsectionsClinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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