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Pediatrics74 papers

MARCH syndrome

Last edited: 4/15/2026

Overview

MARCH syndrome, also referred to as "The Ochoa syndrome," is characterized by distinctive facial expressions during emotional states and congenital urinary tract anomalies including hydronephrosis, hydroureter, intravesical stenosis, and urethral abnormalities. It likely follows an autosomal dominant inheritance pattern with variable expressivity and incomplete penetrance 1.

Diagnosis

  • Key Diagnostic Criteria: Peculiar facial expressions during smiling and crying, congenital urinary obstruction (hydronephrosis, hydroureter), intravesical stenosis, urethral abnormalities (valves, abnormal bladder morphology with trabeculation and diverticula) 1.
  • Recommended Tests: Genetic analysis to confirm autosomal dominant inheritance, renal ultrasound for urinary tract anomalies 1.
  • Grading: No specific grading system mentioned; diagnosis relies on clinical presentation and imaging findings 1.

    • Management

  • First-Line Treatments: Early surgical intervention for urinary tract anomalies (e.g., correction of intravesical stenosis, management of urethral valves) 1.
  • Adjunctive Treatments: Supportive care for facial expression abnormalities may include multidisciplinary approaches including physical therapy or occupational therapy, though specific protocols are not detailed 1.
  • Specific Drug Classes/Doses: No specific drug treatments mentioned for either the facial or urinary manifestations 1.

    • Special Populations

  • Pediatrics: Early recognition and intervention crucial for better prognosis due to congenital nature of anomalies 1.
  • Comorbidities: No specific mention of comorbidities in the provided abstracts 1.

    • Key Recommendations

  • Perform genetic analysis to assess for autosomal dominant inheritance patterns in suspected cases (Evidence: Moderate 1).
  • Initiate early surgical management for congenital urinary tract anomalies to improve outcomes (Evidence: Moderate 1).
  • Recognize peculiar facial expressions as early indicators for prompt evaluation and intervention (Evidence: Expert opinion 1).

    • References

    1 Elejalde BR. Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome". American journal of medical genetics 1979. link

    Original source

    1. [1]
      Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome". — Elejalde BR American journal of medical genetics (1979)
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