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Introduction <p>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.</p> Case Presentation <p>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.</p> Conclusion <p>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.</p>

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MCLMR Syndrome: A Case Report and Systematic Review

  • 期刊论文

  • 发表日期：

    2025年9月20日

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  • Abdelhamid Bouramtane,
  • Omar Askander,
  • Badreddine Elmakhzen,
  • Rania Bouchikhi,
  • Amal Ouskri,
  • Laila Bouguenouch,
  • Karim Ouldim,
  • Mohamed Ahakoud

摘要

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.