Contents

SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences

View all Images (11)

Caudal regression syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Caudal regression syndrome in Infant/Neonate

Contributors: David Sullo MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
8301004 – Caudal dysplasia sequence

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

References

Subscription Required

Last Updated:01/12/2022
Copyright © 2024 VisualDx®. All rights reserved.
Caudal regression syndrome in Infant/Neonate
A medical illustration showing key findings of Caudal regression syndrome : Limb hypoplasia, Muscle atrophy, Urinary incontinence, Fecal incontinence
Imaging Studies image of Caudal regression syndrome - imageId=7900302. Click to open in gallery.  caption: '<span>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.</span>'
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.
Copyright © 2024 VisualDx®. All rights reserved.