VACTERL with hydrocephalus

VACTERL with hydrocephalus (also known as VACTERL-H) is a rare genetic condition that combines the features of VACTERL association with hydrocephalus (excess fluid accumulation in the brain). VACTERL is an acronym representing a non-random co-occurrence of birth defects: Vertebral anomalies, Anal atresia (imperforate anus), Cardiac defects, Tracheo-Esophageal fistula, Renal (kidney) anomalies, and Limb defects (particularly radial ray abnormalities). In VACTERL-H, hydrocephalus is a defining additional feature that distinguishes this condition from the more common VACTERL association. The condition affects multiple organ systems including the skeletal, cardiovascular, gastrointestinal, genitourinary, and central nervous systems. VACTERL with hydrocephalus is genetically heterogeneous. Both autosomal recessive and X-linked recessive inheritance patterns have been described. The X-linked form has been linked to mutations in the FANCB gene (associated with Fanconi anemia complementation group B), and some patients may show features overlapping with Fanconi anemia, including chromosomal breakage. The autosomal recessive form has been associated with mutations in the ZIC3 gene in some cases, though genetic heterogeneity remains. Affected individuals typically present at birth with multiple congenital anomalies. Treatment is supportive and symptom-specific, often requiring a multidisciplinary approach. Surgical interventions may be needed for hydrocephalus (ventriculoperitoneal shunt placement), cardiac defects, tracheo-esophageal fistula repair, and correction of anal atresia. Orthopedic management may be required for vertebral and limb anomalies, and renal anomalies may necessitate urological follow-up. Prognosis varies depending on the severity of the individual malformations, but the condition can be associated with significant morbidity and mortality, particularly in severe cases.

Common questions about VACTERL with hydrocephalus