Short answer · Medically reviewed summary · Last updated: 2026-04-07
Sacral agenesis, also known as caudal regression syndrome, is categorized under ICD-10 code Q76.49 (Congenital malformation of spine, not otherwise specified) and historically under ICD-9 code 756.17 (Anomalies of lumbosacral region). These codes are used for medical billing and clinical documentation to identify the spectrum of developmental abnormalities affecting the lower spine and pelvis. What is the clinical scope of sacral agenesis and caudal regression syndrome? Sacral agenesis, frequently referred to as caudal regression syndrome, is a rare congenital anomaly characterized by the abnormal development of the lower (caudal) portion of the spine.
ICD10 code of Sacral agenesis / Caudal regression syndrome and ICD9 code
ICD-10 and ICD-9 codes for Sacral agenesis / Caudal regression syndrome, with classification details for clinicians, coders and patients.
Sacral agenesis, also known as caudal regression syndrome, is categorized under ICD-10 code Q76.49 (Congenital malformation of spine, not otherwise specified) and historically under ICD-9 code 756.17 (Anomalies of lumbosacral region). These codes are used for medical billing and clinical documentation to identify the spectrum of developmental abnormalities affecting the lower spine and pelvis.
What is the clinical scope of sacral agenesis and caudal regression syndrome?
Sacral agenesis, frequently referred to as caudal regression syndrome, is a rare congenital anomaly characterized by the abnormal development of the lower (caudal) portion of the spine. The severity of sacral agenesis exists on a broad spectrum, ranging from the absence of a few sacral vertebrae to the complete lack of the sacrum and lumbar spine. Because caudal regression syndrome often affects the development of the spinal cord, nerves, and pelvic organs, individuals may experience varying degrees of mobility challenges, bladder and bowel dysfunction, and orthopedic complications.
How are ICD codes utilized for caudal regression syndrome?
In the medical coding system, sacral agenesis does not have a single, exclusive ICD-10 code dedicated solely to the condition. Instead, clinicians utilize broader categories under congenital malformations of the musculoskeletal system. The following codes are commonly associated with the diagnosis and management of caudal regression syndrome:
- ICD-10 Q76.49: Used for congenital malformations of the spine, covering the structural absence of vertebral segments.
- ICD-10 Q76.4: Other congenital malformations of the spine.
- ICD-9 756.17: The legacy code formerly used to document lumbosacral anomalies, including sacral agenesis.
Is sacral agenesis hereditary or caused by external factors?
The etiology of caudal regression syndrome is complex and multifactorial. While the exact cause remains unknown in many cases, there is a well-documented statistical association between sacral agenesis and maternal diabetes. Research suggests that infants of mothers with pre-gestational diabetes are approximately 200 to 400 times more likely to develop this condition than the general population. While most cases occur sporadically, genetic counseling is recommended to explore potential underlying genetic pathways, especially when the condition presents as part of a broader syndrome like VACTERL association.
How does the DiseaseMaps community support those with this condition?
Living with sacral agenesis requires a multidisciplinary approach involving pediatric orthopedics, urology, and neurology. Within the DiseaseMaps.org community, 12 people with sacral agenesis or caudal regression syndrome have connected to share their unique experiences. Engaging with a community platform allows patients and caregivers to exchange practical tips on navigating healthcare systems, managing daily mobility, and finding emotional support through shared experiences of rare disease management.
Next steps
- Consult a pediatric orthopedist or a spinal specialist to establish a baseline for your specific anatomy.
- Coordinate with a urologist to manage neurogenic bladder symptoms, which are common in caudal regression syndrome.
- Seek a referral to a clinical geneticist to discuss potential underlying causes or syndromic associations.
- Connect with the 12 members on DiseaseMaps.org to share resources and find peer support.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician with any questions regarding a medical condition.
