22q11 Deletion Syndrome

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Also Known As:

22q11 Deletion Syndromes; Deletion Syndrome, 22q11; Deletion Syndromes, 22q11; Syndrome, 22q11 Deletion; Syndromes, 22q11 Deletion

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - 22q11 Deletion Syndrome: 43
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - 22q11 Deletion Syndrome: 43
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - 22q11 Deletion Syndrome: 43
Hemic and Lymphatic Diseases: 6
- Lymphatic Diseases: 92
  - Lymphatic Abnormalities: 46
    - 22q11 Deletion Syndrome: 43
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - 22q11 Deletion Syndrome: 43
  - Multiple Abnormalities: 211
    - 22q11 Deletion Syndrome: 43
  - Chromosome Disorders: 136
    - 22q11 Deletion Syndrome: 43
  - Lymphatic Abnormalities: 46
    - 22q11 Deletion Syndrome: 43
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - 22q11 Deletion Syndrome: 43
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - 22q11 Deletion Syndrome: 43
Endocrine System Diseases: 968
- Parathyroid Diseases: 240
  - Hypoparathyroidism: 2755
    - 22q11 Deletion Syndrome: 43

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