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Ring chromosome 8 syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Chromosome 8 derived supernumerary ring; Ring Chromosome 8 Syndrome
SNOMED CT: Ring chromosome 8 syndrome (715983001); Chromosome 8 derived supernumerary ring (715983001)


A rare chromosomal anomaly from a variable part 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 intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 8 syndrome

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