caudal regression-sirenomelia spectrum

Caudal regression-sirenomelia spectrum is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This condition is characterized by varying degrees of malformations affecting the caudal abdomen, pelvis, renal, anorectal, urogenital, and/or lumbosacral spine, with potential lower limb fusion. No specific inheritance patterns, associated genes, or known symptoms have been documented in the available data. There are currently no orphan drug designations under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand potential hereditary aspects of the condition. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced with similar conditions can also be beneficial.