Autosomal dominant malformative syndrome

Synopsis

 presacral teratoma
 sacral defect
 anal malformations

• anal stenosis
• imperforate anus
• anal canal duplication (#12720188#)

 vascular anomalies

• primitive sciatic artery
• arteriovenous shunting

 sacral meningomyelocele
 tethered spinal cord (fixed filum terminale)
 hydrocephalus

 genito-urinary anomalies

• ambiguous genitalia
• duplex ureter
• hydronephrosis
• vesicoureteral reflux
• neurogenic bladder
• bicornuate uterus
• rectovaginal fistula

Etiology

 germline mutation in the homeobox gene HLXB9 (MIM.142994)in some cases.

See also

 sacrococcygeal anomalies
 caudal regression syndromes