The Currarino syndrome is an inherited congenital disorder

Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...

 where (1) the sacrum

Sacrum

In vertebrate anatomy the sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx...

 (the fused vertebrae forming the back of the pelvis

Pelvis

In human anatomy, the pelvis is the lower part of the trunk, between the abdomen and the lower limbs .The pelvis includes several structures:...

) is not formed properly, (2) there is a mass in the presacral space

Presacral space

In human anatomy, the presacral space is inside the pelvis, behind the rectum and in front of the coccyx and sacrum. Normally it is empty, or it contains a pocket of fat.It is usually covered by sigmoid colon.-Clinical significance:...

 in front of the sacrum, and (3) there are malformations of the anus

Anus

The anus is an opening at the opposite end of an animal's digestive tract from the mouth. Its function is to control the expulsion of feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest,...

 or rectum

Rectum

The rectum is the final straight portion of the large intestine in some mammals, and the gut in others, terminating in the anus. The human rectum is about 12 cm long...

. It can also cause an anterior meningocele

Spina bifida

Spina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through...

 or a presacral teratoma

Teratoma

A teratoma is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. There are rare occasions when not all three germ layers are identifiable...

.

Presacral teratoma usually is considered to be a variant of sacrococcygeal teratoma

Sacrococcygeal teratoma

Sacrococcygeal teratoma is a teratoma located at the base of the coccyx . It is thought to be a derivative of the primitive streak.-Natural history:...

. However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind.

Genetics

The disorder is an autosomal dominant genetic trait caused by a mutation in the HLXB9 homeobox gene.