urorectal septum malformation sequence
urorectal septum malformation (URSM) sequence
The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings.
Synopsis
anorectal agenesis (anorectal atresia)
partial colonic agenesis
renal agenesis
- bilateral renal agenesis
- unilateral renal agenesis
- obstructive renal dysplasia (dysplastic kidneys)
References
Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF. Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature. Am J Med Genet. 1997 Dec 31;73(4):456-62. PMID: 9415474