Currarino Syndrome

Alternative Names

  • Currarino-Triad
  • Sacral Agenesis Syndrome
  • Sacral Agenesis, Hereditary, with Presacral Mass, Anterior Meningocele, and/or Teratoma, and Anorectal Malformation
  • SCRA1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

176450

Mode of Inheritance

Autosomal dominant

Gene Map Locus

7q36.3

Description

Currarino Syndrome is an autosomal dominant condition characterized by the triad of presacral mass, sacral agenesis, and anorectal malformations.  The presacral mass may consist of a teratoma, or an anterior sacral meningocele or both.  Sacral agenesis is associated with pelvic malformations.  Patients may also present with renal or gynecological abnormalities.  The most common presenting feature among infants is bowel obstruction or chronic constipation.  Other features seen in patients include urinary incontinence, dysmenorrhoea, dyspareunia, poor sphincter control, and sacral anesthesia.  There is a wide range of severity in the manifestation of this condition.  In fact, a significant proportion of patients are asymptomatic and may only be diagnosed during adulthood incidentally on the basis of radiological examinations.  

Epidemiology in the Arab World

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Other Reports

Arab

Cuturilo et al. (2016) described a Middle Eastern patient with Currarino syndrome.  The male patient was born at term after an uncomplicated pregnancy to a consanguineous couple (first cousins).  He had low birth weight and had sacral agenesis, tethered spinal cord, and a sacral mass (intraspinal lipoma).  At the age of 3-years, he was short-statured, had generalized hypotonia, microcephaly, severe developmental delay, and facial dysmorphism.  Chromosomal microarray analysis revealed a 4.4-Mb terminal deletion of the 7q36.2 containing 20 genes, including MNX1. Parental studies yielded normal results. 

Lebanon

Hage et al. (2019) described a child who presented with Currarino Syndrome. A year post diagnosis, she was found to have a malignant mixed germ cell tumor in the presacral area. 

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