DiGeorge Syndrome

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Also Known As:

Syndrome, DiGeorge; Velocardiofacial Syndrome; 22q11.2 Deletion Syndrome; 22q11.2DS; Autosomal Dominant Opitz G-Bbb Syndrome; Catch22; Conotruncal Anomaly Face Syndrome; Conotruncal Anomaly Face Syndrome (CTAF); Deletion 22q11.2 Syndrome; DiGeorge Anomaly; DiGeorge Sequence; Familial Third and Fourth Pharyngeal Pouch Syndrome; Hypoplasia of Thymus and Parathyroids; Pharyngeal Pouch Syndrome; Sedlackova Syndrome; Shprintzen Syndrome; Shprintzen VCF Syndrome; Third and Fourth Pharyngeal Pouch Syndrome; Thymic Aplasia Syndrome; VCF Syndrome; Velo-Cardio-Facial Syndrome; Autosomal Dominant Opitz G Bbb Syndrome; Deletion Syndrome, 22q11.2; Syndrome, Sedlackova; Syndrome, Shprintzen; Syndrome, VCF; Syndrome, Velo-Cardio-Facial; Syndrome, Velocardiofacial; Velo Cardio Facial Syndrome

Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
Hemic and Lymphatic Diseases: 7
- Lymphatic Diseases: 96
  - Lymphatic Abnormalities: 49
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - 22q11 Deletion Syndrome: 43
        DiGeorge Syndrome: 699
  - Multiple Abnormalities: 213
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
  - Chromosome Disorders: 140
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
  - Lymphatic Abnormalities: 49
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - 22q11 Deletion Syndrome: 43
        DiGeorge Syndrome: 699
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699
Endocrine System Diseases: 996
- Parathyroid Diseases: 241
  - Hypoparathyroidism: 2828
    - 22q11 Deletion Syndrome: 43
      - DiGeorge Syndrome: 699

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