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Caudal regression syndrome in Infant/Neonate
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Caudal regression syndrome in Infant/Neonate

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Contributors: David Sullo MD
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Congenital abnormality characterized by malformation or absence of the sacrum, usually with associated spinal dysraphism and tethered cord. Presentation can range from mild to life-threatening. It may be an isolated defect or can be found as part of associated syndromes, such as the VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal abnormalities, renal and radial abnormalities, and limb abnormalities).

Other characteristics include narrow hips, hypoplastic gluteal muscles, short intergluteal cleft, sacral dimple, lower limb flexion contractures, clubfeet, and leg atrophy. Neurological abnormalities such as poorly controlled urinary and bowel function are often observed. Most commonly seen in infants born to mothers with diabetes. Treatment is symptomatic.

For more information, see OMIM.


Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

8301004 – Caudal dysplasia sequence

Differential Diagnosis & Pitfalls

Caudal regression syndrome is a type of spinal dysraphic anomaly, any of which should be considered as part of the differential (sacral meningocele, spina bifida occulta, sacrococcygeal teratoma, etc).

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Last Updated: 03/29/2017
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Caudal regression syndrome in Infant/Neonate
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Caudal regression syndrome : Limb hypoplasia, Muscle atrophy, Urinary incontinence
Imaging Studies image of Caudal regression syndrome
Sag T2 MRI demonstrates an abnormally developed sacral spine which is absent below the level of S2, and there is a cigar shaped/blunted appearance of the spinal cord which terminates at T12. These findings are characteristic of caudal regression syndrome.
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