The Urorectal Septum Malformation Sequence (URSMS) covers a spectrum of malformations that may affect several different organs, primarily in the abdomen, pelvis and perineum. The complete form is associated with perinatal mortality.

Pathogenesis: deficiency in caudal end of the mesoderm and/or defect in the cloacal endoderm, peri-cloacal mesenchyme and genital ectoderm


Genes implicated include:

(1) TMEM132A


(3) HOXD9

(4) SLIT2



(1) full or complete type

(2) partial or intermediate type

(3) mild


Gastrointestinal anomalies include:

(1) anal agenesis

(2) urorectal septum hypoplasia

(3) persistent cloaca


Urinary tract anomalies

(1) renal agenesis

(2) dysplastic kidneys

(3) horseshoe kidney

(4) hypoplastic, ectopic kidney


Genital malformations

(1) agenesis or hypoplasia

(2) Mullerian duct abnormalities


Skeletal abnormalities:

(1) sacral agenesis

(2) lumbosacral dysraphism


The patient often has other significant malformations that may affect the brain, aortic arch, heart, lung and esophagus.


To read more or access our algorithms and calculators, please log in or register.