8q22.1 microdeletion syndrome

Definition

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

Also known as monosomy 8q22.1, Nablus mask-like facial syndrome — per MONDO

Also identified as

• MESH C536110 per MONDO
• OMIM 608156 per MONDO
• Orphanet 178303 per MONDO
• SCTID 719664004 per MONDO
• UMLS C1842464 per MONDO