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8q22.1 microdeletion syndrome

Disease definition

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


Classification level: Disorder
  • Synonym(s):
    • Monosomy 8q22.1
    • Nablus mask-like facial syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 608156
  • UMLS: C1842464
  • MeSH: -
  • GARD: 4722
  • MedDRA: -
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