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What are the key clinical features to consider when diagnosing Hirschsprung's disease in infants?

Answer

Guideline-Aligned (High Confidence)
Generated by iatroX. Developer: Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner).
Last reviewed: 22 August 2025

Key clinical features to consider when diagnosing Hirschsprung's disease in infants include:

  • Delayed passage of meconium beyond 48 hours after birth, which is a hallmark early sign raising suspicion for Hirschsprung's disease 1.
  • Chronic constipation or failure to pass stools, often accompanied by abdominal distension and vomiting, indicating bowel obstruction 1.
  • Palpable abdominal distension and a tight, empty rectum on digital rectal examination, which may produce explosive release of stool and gas upon withdrawal, known as the "squirt sign" 1.
  • Signs of enterocolitis such as fever, diarrhea, and lethargy, which can complicate the disease and require urgent attention (Gorbatyuk, 2022).
  • Failure to thrive or poor weight gain due to chronic bowel dysfunction (Matsukuma et al., 2023).
  • In some cases, a family history of Hirschsprung's disease or associated syndromes (e.g., Down syndrome) may be present, supporting the diagnosis 1.

These clinical features, combined with diagnostic investigations, guide the diagnosis of Hirschsprung's disease in infants 1.

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This content was generated by iatroX. Always verify information and use clinical judgment.