Abstract
Introduction
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual developmental disorders (MCLMR) is a rare genetic syndrome caused by autosomal dominant pathogenic variants in the KIF11 gene. The condition is primarily characterized by microcephaly, chorioretinopathy, and developmental delays. Despite advancements in genetic diagnosis, phenotypic variability and co-occurrence with other rare syndromes remain underexplored.
Case Presentation
We report the case of a 9-year-old boy with clinical features consistent with MCLMR and a pathogenic variant in KIF11, confirmed by whole-exome sequencing (WES). An additional variant in the NLRP12 gene was also identified. A systematic review of 135 reported cases, from 15 studies on MCLMR, was conducted, focusing on clinical manifestations, genetic variants, and phenotypic variability, further contextualizing this patient’s presentation.
Conclusion
This case underscores the importance of integrating advanced genomic technologies into the diagnosis of rare genetic conditions, particularly in complex phenotypes involving overlapping syndromes. It also highlights the need for systematic evaluation of rare clinical features in patients diagnosed with or suspected of having MCLMR, contributing to a deeper understanding of this syndrome and its broader implications.
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Data Availability
No datasets were generated or analysed during the current study.
Code availability
Not applicable.
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Acknowledgements
I am infinitely grateful to Dr Maryem El Yagoubi and Dr Yahya Bouramtane for their invaluable support.
Funding
This case report did not receive any external funding for its completion.
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Contributions
AB: Conceived the study, performed the clinical evaluation, conducted the literature review, and drafted the manuscript. OA: Contributed to the systematic review, data extraction, and statistical analysis. BE: Supervised study design, contributed to methodological refinement, and revised the manuscript critically. RB: Participated in quality assessment of included studies and data validation. AO: Assisted in clinical data collection and formatting of figures and tables. LB: Provided critical review of clinical interpretation and helped in manuscript editing. KO: Provided supervision, critical intellectual input, and final approval of the manuscript. MA: Participated in diagnostic orientation, ethical oversight, and manuscript revision.
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Signed informed consents were obtained from the parents of the patients to conduct DNA analysis. Approval for this study was granted by the University Hospital Ethics Committee of Fes, Morocco.
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The patient’s legal guardians provided written informed consent for the publication of this case report and accompanying photos.
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The authors declare no competing interests.
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Bouramtane, A., Askander, O., Elmakhzen, B. et al. MCLMR Syndrome: A Case Report and Systematic Review. SN Compr. Clin. Med. 7, 303 (2025). https://doi.org/10.1007/s42399-025-02070-4
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DOI: https://doi.org/10.1007/s42399-025-02070-4