Sacral defect and anterior sacral meningocele

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

Also Known As:

Agenesis of sacrum; Caudal Dysgenesis Syndrome; Hypoplasia of sacrum; Lumbosacral agenesis; Sacral Defect with Anterior Meningocele; Sacral agenesis; Sacral defect anterior meningocele

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Sacral defect and anterior sacral meningocele: 30
  - Nervous System Malformations: 36
    - Neural Tube Defects: 4363
      - Meningocele: 168
        Sacral defect and anterior sacral meningocele: 30
Nervous System Diseases: 14737
- Nervous System Malformations: 36
  - Neural Tube Defects: 4363
    - Meningocele: 168
      - Sacral defect and anterior sacral meningocele: 30
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Hernia: 7811
    - Meningocele: 168
      - Sacral defect and anterior sacral meningocele: 30
Body Regions
- Torso
  - Back
    - Sacrococcygeal Region
      - Sacral defect and anterior sacral meningocele: 30

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