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<p>We report a child who presented with syndromic cleft lip and palate that required a customized management, and genetic testing was found to have a MED 12 gene abnormality along with being a carrier for G6PD deficiency. This association has not been previously reported. The facies were characteristic of Hardikar syndrome, but the other phenotypic manifestations were not found. Hardikar syndrome is an ultra-rare congenital anomaly occurring due to a defect in the MED-12 gene on the X chromosome. Only 19 such cases have been reported so far.</p>

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MED 12 Gene Variant with G6PD Gene Defect in a Child with Cleft Lip Palate: Unique Diagnostic and Therapeutic Challenge

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Neela Bhattacharya,
  • A. Priya Margaret,
  • Kaushik Bhattacharya,
  • Ramitha Enakshi Kumar,
  • Aditya Shikar Bhattacharya

摘要

We report a child who presented with syndromic cleft lip and palate that required a customized management, and genetic testing was found to have a MED 12 gene abnormality along with being a carrier for G6PD deficiency. This association has not been previously reported. The facies were characteristic of Hardikar syndrome, but the other phenotypic manifestations were not found. Hardikar syndrome is an ultra-rare congenital anomaly occurring due to a defect in the MED-12 gene on the X chromosome. Only 19 such cases have been reported so far.