sacral defect with anterior meningocele

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sacral defect with anterior meningocele

An autosomal dominant form (OMIM:600145) of caudal dysgenesis that is present at birth and becomes symptomatic later in life, usually due to obstructive labour in females, chronic constipation or meningitis.

Molecular pathology
Defects of VANGL1 are a cause of sacral defect with anterior meningocele.