Genetic marker: HLXB9 on chromosome 7q36
Inheritance: autosomal dominant
Clinical features:
(1) hemisacrum
(2) anorectal malformation
(2a) rectoperineal fistula
(2b) rectourethral fistula
(2c) rectovestibular fistula
(2d) rectocloacal fistula
(2e) imperforate anus
(3) presacral mass
(3a) anterior menigocele
(3b) teratoma
(3c) dermoid cyst
(3d) rectal duplication
(3e) other tumor (nephroblastoma, leiomyosarcoma, etc)
Additional findings:
(1) Hirschsprung's disease or intestinal dysganglionosis
(2) urinary tract malformations (vesicoureteral reflux)
(3) neural tube defect (tethered cord, other)
(4) costal anomalies
(5) gynecologic anomalies
(6) cardiac anomalies
