Currarino Syndrome Testing (MNX1)

Currarino syndrome is an autosomal dominant condition defined by a triad of findings including partial sacral agenesis, presacral mass, and anorectal malformation. Common presenting clinical findings include anterior meningocele, other presacral mass (e.g. teratoma, lipoma, cyst), chronic constipation in childhood, and renal/urinary tract and/or gynecologic issues. In affected individuals, sacral agenesis typically involves sacral vertebrae S2-S5. Variable expressivity and reduced penetrance have been reported in families with MNX1-related Currarino syndrome, though a proportion of reportedly asymptomatic individuals are noted to have visible sacral defects on X-ray. Heterozygous pathogenic variants in MNX1  have been identified in nearly all cases of familial Currarino syndrome and in ~30% of sporadic cases.