Sacrococcygeal dysgenesis association

Sacrococcygeal dysgenesis association (also referred to as sacral agenesis syndrome or caudal regression syndrome in broader contexts) is a rare congenital condition characterized by abnormal development or absence of the sacrum and coccyx (the lower segments of the spine), along with associated anomalies of structures derived from the caudal region of the embryo. This condition affects multiple body systems, including the musculoskeletal, urogenital, gastrointestinal, and nervous systems. The spectrum of sacrococcygeal dysgenesis can range from partial absence of the coccyx to complete absence of the sacrum and lumbar vertebrae. Key clinical features include varying degrees of sacral and coccygeal agenesis, anorectal malformations (such as imperforate anus), urogenital anomalies (including renal agenesis or dysplasia, neurogenic bladder), and lower limb abnormalities (such as hip dislocation, limb hypoplasia, or contractures). Neurological deficits of the lower extremities, including motor and sensory impairment, are common depending on the level of spinal involvement. Some patients may also present with tethered spinal cord or meningocele. Treatment is multidisciplinary and largely supportive, tailored to the specific anomalies present in each patient. Surgical interventions may be required for anorectal malformations, urological abnormalities, and orthopedic deformities. Ongoing management often involves pediatric surgery, urology, orthopedics, neurology, and rehabilitation services. Bowel and bladder management programs are frequently necessary. The prognosis varies widely depending on the severity of the vertebral defects and associated malformations. While the condition is most commonly sporadic, an association with maternal diabetes mellitus has been reported in some cases.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

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Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Common questions about Sacrococcygeal dysgenesis association