Review Paper:
The genetic complexity
of anorectal malformations
Prasad Bheem
Res. J. Biotech.; Vol. 17(1); 190-197;
doi: https://doi.org/10.25303/1701rjbt190197; (2022)
Abstract
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, singlegene 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.
