The genetic complexity of anorectal malformations

Anorectal malformations (ARMs) are a heterogeneous group of congenital anomalies having an incidence of 1 per 5000 live births. ARM is among the most common surgically treated congenital anomalies. The genetic causes of anorectal malformations are complex and varied including chromosomal aberrations, single-gene disorders and phenotype with multifactorial inheritance. However, the exact aetiology remains largely unknown. It can be syndromic or nonsyndromic, sporadic, or familiar with a different mode of inheritance. Genetic information can provide a deeper understanding of genotype-phenotype correlation, disease nature and prognosis of the anorectal malformations. This review provides an overview of the genetic causes associated with ARMs. More emphasis is given to the monogenic syndromes with a brief overview of associated anomalies which play an essential role in genetic diagnosis, management and prevention strategies.