OMIM number: 176450
Comments closing date: 24/01/2019
Currarino syndrome (CS – previously called Currarino triad) is a genetic condition that has 3 main features. 1. Partial sacral agenesis -the lower part of the sacrum, the bone at the bottom of the spine that forms part of the pelvis, doesn’t develop fully. It is often described as ‘sickle shaped’. 2. Presacral mass - an abnormal structure that develops in front of the sacrum during fetal development.
There are different types of mass including teratoma (a tumour of different cell types e.g. hair and bone. Benign but can become malignant); meningocele (an outpouching of the meninges, the covering of the spinal cord, which forms a sac); cyst. 3. Anorectal malformations – abnormalities of the anus and rectum, including anal atresia (the anus doesn’t form), imperforate anus (the anal opening doesn’t form), rectal or anal stenosis (narrowing of the rectum and/or anus). In addition, genitourinary abnormalities can occur, including vesico-ureteric reflux (backflow of urine from the bladder to the kidneys which increases the risk of urinary tract infections which can cause kidney scarring and occasionally kidney failure.) and abnormal womb structure.
Chronic constipation is a frequent complication and may require surgery and stoma (bag attached to the abdomen which collects faeces) formation in severe cases. Cancer incidence is increased, especially cancer developing from teratoma, which often occurs in childhood and can result in death. Overall risk of cancer less than 1%. Increased risk of spinal cord tethering (spinal cord abnormally fixed to spine which stretches nerves to lower limbs, bladder and bowel affecting their function), meningitis and incontinence (bowel and bladder).
Review date: 27 December 2020