Failure of formation of all or part of the
sacrum (the lowest section of the spine).
Currarino syndrome is a condition characterized by the combination
of:
Partial absence of the sacrum (the lowest portion of spine),
Anorectal (anal and rectal) abnormalities, and
An abnormal mass in front of the sacrum (due to a meningocoele or
teratoma).
The malformations in Currarino syndrome are all in tissues that
have their embryological origin in the tail bud and may reflect
disturbances in its formation during early embryonic life.
A mutation (change) in a gene called the HLXB9 homeobox gene has
been identified as responsible for autosomal dominant Currarino
syndrome, also known as hereditary sacral agenesis.
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