Currarino syndrome


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Currarino syndrome

An autosomal dominant condition (OMIM:176450) characterised by sacral agenesis, a presacral mass and anorectal malformation, variably accompanied by anterior meningocele or a presacral teratoma.

Molecular pathology
Defects in MNX1/HLXB9, which encodes a nuclear transcription factor involved in pancreas development and function, cause Currarino syndrome.

Currarino,

Guido, Italian-born U.S. radiologist, 1920–. U.S. radiologist born in Italy, 1920–.
Currarino triad - complex of anococcygeal congenital anomalies. Synonym(s): Currarino syndrome
Currarino-Silverman syndrome - growth abnormality of the sternum. Synonym(s): Silverman syndrome
Currarino syndrome - Synonym(s): Currarino triad
References in periodicals archive ?
The Currarino syndrome is a triad of anomalies consisting of an ARM, sacral defect, and presacral mass.
Table 1: Summary of Currarino Syndrome Etiology Hereditary disorder caused by a mutation in the coding sequence of HLXB9, localized to chromosome 7q36.
Currarino syndrome is a rare congenital complex disorder characterized by triad of partial sacral agenesis, anorectal malformation, and presacral mass [1].
The true incidence of Currarino syndrome is difficult to determine due to high proportion of clinically asymptomatic patients and variability of phenotypic expression.
Causes of meningocele include teratoma and other tumors of the sacrococcyx and of the pre sacral space and Currarino syndrome.
In humans, the Currarino syndrome (a sacral agenesis caused by mutations in the homeobox-containing gene HLXB9) is associated with congenital caudal anomalies.
New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases).
The Currarino syndrome (C5; OMIM 176450) has been described as a triad of partial sacral agenesis with intact first sacral vertebra (sickle-shaped sacrum), presacral mass, and anorectal malformations (1-3).
HLXB9 and sacral agenesis and the Currarino syndrome.
Epidermoid Cyst Inside Anterior Sacral Meningocele in an Adult Patient of Currarino Syndrome Manifesting with Meningitis, Turkish Neurosurgery 2012, Vol: 22, No: 5, 659-661 Turkish Neurosurgery 2012, Vol: 22, No: 5, 659-661.
The Currarino syndrome - Hereditary transmitted syndrome of anorectal, sacral, and presacral anomalies.
In humans, a genetic etiology for congenital caudal anomalies has only been confirmed for the Currarino syndrome, a sacral agenesis caused by mutations in the homeobox-containing gene HLXB9 (1).