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Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties

Fangjian Gao1, Shuyan Li1, Li Hu2

  • 1Guangdong Medical University, Zhanjiang, China.

Frontiers in Pediatrics
|November 10, 2025
PubMed

Insights

CHARGE syndrome, a genetic disorder affecting development, can present with esophageal atresia and feeding issues in newborns. Early CHD7 gene sequencing is crucial for diagnosis, especially with prenatal ultrasound findings.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • CHARGE syndrome is a complex genetic disorder characterized by multiple congenital anomalies.
  • Pathogenic variants in the CHD7 gene are the primary cause of CHARGE syndrome, leading to loss of function.
  • Key features include coloboma, heart defects, choanal atresia, growth retardation, genital, and ear abnormalities.

Keywords:
CHARGE syndromeCHD7congenital disordersesophageal atresiafeeding difficulties

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