Ring chromosome 16

Definition

Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.

Also known as Ring chromosome type 16 — per MONDO

Also identified as

• Orphanet 96178 per MONDO
• SCTID 763406004 per MONDO
• UMLS C4706449 per MONDO