chromosome 8-derived supernumerary ring/marker
Findings
No curated finding names chromosome 8-derived supernumerary ring/marker yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.
Definition from the Mondo Disease Ontology (MONDO:0015443), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormality of the ureterHPOHP:0000069
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Deviation of fingerHPOHP:0004097
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Sloping foreheadHPOHP:0000340
- Very frequent (80% to 99% of cases)
Where it sits
Other names
5 names
Resolves to: chromosome 8-derived supernumerary ring/marker
- Also called
- r(8) syndromeRing 8ring chromosome 8rose cluster 8supernumerary ring/marker 8