Sacral defect and anterior sacral meningocele [Supplementary Concept]
A hereditary autosomal dominant form of caudal dysgenesis that is present at birth and becomes symptomatic later in life due to obstructive labor in females, chronic CONSTIPATION, or MENINGITIS. Caudal dysgenesis syndrome and caudal regression syndrome broadly refer to a range of congenital caudal anomalies affecting the caudal SPINE and SPINAL CORD, the hindgut, the UROGENITAL SYSTEM, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have TYPE I DIABETES MELLITUS. A mutation in the VANGL1 gene has been identified in some cases of caudal regression. OMIM: 600145
Date introduced: August 25, 2010
MeSH Unique ID: C537221
Heading Mapped to:
Entry Terms:
- Sacral defect anterior meningocele
- Sacral Defect with Anterior Meningocele
- Sacral agenesis
- Agenesis of sacrum
- Hypoplasia of sacrum
- Lumbosacral agenesis
- Caudal Dysgenesis Syndrome