Currarino's syndrome

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A developmental disorder (sacral agenesis) in which there is partial sacral agenesis with an intact first sacral vertebra, a presacral mass, and anorectal malformation. Some cases are caused by mutation in the HLXB9 homeobox gene, others may be due to mutations in RHEB which is mapped to the same chromosomal region.

Subjects: Medicine and Health.

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