Month: April 2026

🚻 Genitourinary (GU) anomalies in Down syndrome

Renal / urinary tract anomalies:

• Hydronephrosis
• Vesicoureteral reflux (VUR)
• Posterior urethral valves (PUV) (in males)
• Structural renal anomalies (less frequent than cardiac/GI)

External genital anomalies:

• Cryptorchidism (undescended testes)
• Hypospadias
• Smaller genitalia (common phenotypic feature, not a malformation)

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🧠 Clinical Pearls (Exam gold)

• If a neonate with Down syndrome has bilious vomiting → think duodenal atresia first
• If there is delayed meconium → rule out Hirschsprung disease
• Always screen:
  • Echocardiography (most important—AV canal defects common)
  • Abdominal ultrasound if symptoms suggest GU involvement

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🔑 High-yield GI associations:

• Duodenal atresia
  • Classic “double bubble” sign on X-ray
  • Presents with early bilious vomiting
• Hirschsprung disease
  • Failure to pass meconium, abdominal distension
  • Due to absence of ganglion cells in distal colon
• Annular pancreas
  • Can cause duodenal obstruction
• Imperforate anus (less common than in VACTERL but reported)

⚠️ Pattern to remember

• Down syndrome = GI obstruction + Hirschsprung risk
• GU anomalies are less consistent but still clinically relevant