Anorectal Malformations

Anorectal Malformations

Anorectal malformations (ARMs) are a spectrum of congenital defects affecting the distal anus and rectum. These disorders occur during embryonic development and can range from minor anatomical anomalies to complex defects involving multiple organ systems.

Key Points:

  • ARMs occur in approximately 1 in 5000 live births.
  • They are often associated with other congenital anomalies, particularly those of the genitourinary system.
  • Early diagnosis and appropriate management are crucial for optimal functional outcomes.
  • Treatment typically involves surgical correction and long-term follow-up.
  • The severity of the malformation significantly impacts prognosis and quality of life.

Embryology and Etiology:

ARMs result from abnormal development of the hindgut and urogenital sinus during the 4th to 8th weeks of gestation. The precise etiology is not fully understood, but it likely involves a combination of genetic and environmental factors. Some key aspects include:

  • Failure of the urorectal septum to descend properly, leading to incomplete separation of the urogenital and anorectal tracts.
  • Abnormal development of the dorsal cloaca, which can result in various types of fistulas.
  • Genetic factors, including mutations in genes such as SHH, GLI2, and BMP4, have been implicated in some cases.
  • Environmental factors, such as maternal diabetes or exposure to certain teratogens, may increase the risk of ARMs.


Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.





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