Hirschsprung disease results from failure of neural crest cell migration. The length of aganglionic segment determines the clinical presentation. In which condition is Hirschsprung disease most commonly found as an associated anomaly?

• A Turner syndrome (45,X)
• B Trisomy 21 (Down syndrome) ✓
• C Marfan syndrome
• D Prader-Willi syndrome

Explanation

Trisomy 21 (Down syndrome) is the most common chromosomal abnormality associated with Hirschsprung disease, occurring in approximately 10% of Hirschsprung patients. The RET proto-oncogene mutations are the most common genetic cause (50% of familial, 15% of sporadic). Other associations include Waardenburg syndrome, multiple endocrine neoplasia 2A (MEN2A—RET mutations), and Shah-Waardenburg syndrome. Turner and Marfan syndromes are not associated with Hirschsprung disease.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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