ring chromosome 22
Findings
No curated finding names ring chromosome 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.
Definition from the Mondo Disease Ontology (MONDO:0015438), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2-3 toe syndactylyHPOHP:0004691
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- AzoospermiaHPOHP:0000027
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Dolichocephaly
Show the remaining 21
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Impaired pain sensationHPOHP:0007328
- Frequent (30% to 79% of cases)
- Inappropriate behaviorHPOHP:0000719
- Frequent (30% to 79% of cases)
- Large handsHPOHP:0001176
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: ring chromosome 22
- Also called
- Chromosome 22 Ringr(22) syndromeRing chromosome type 22