Orphanet: 22q11.2 deletion syndrome
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22q11.2 deletion syndrome

Disease definition

A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

ORPHA:567

Classification level: Disorder
  • Synonym(s):
    • 22q11DS
    • CATCH 22
    • Cayler cardiofacial syndrome
    • Conotruncal anomaly face syndrome
    • DiGeorge sequence
    • DiGeorge syndrome
    • Microdeletion 22q11.2
    • Monosomy 22q11
    • Sedlackova syndrome
    • Shprintzen syndrome
    • Takao syndrome
    • Velocardiofacial syndrome
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D82.1
  • OMIM: 188400  192430
  • UMLS: C0012236  C0220704  C0431406  C0795907  C2936346  C3266101
  • MeSH: D058165
  • GARD: 10299
  • MedDRA: 10012979  10066430
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