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Ring chromosome 3

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: chromosome 3 ring; R3; Ring 3; ring chromosome 3; Ring chromosome 3 syndrome; Ring chromosome type 3; rose cluster 3
SNOMED CT: Ring chromosome 3 (765486004); Ring chromosome 3 syndrome (765486004)
Monarch Initiative: MONDO:0019904
Orphanet: ORPHA96172


A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are pre and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (clinodactyly, brachydactyly), cafe au lait patches and hypospadias. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 3

Professional guidelines


Alsubhi S, Berrahmoune S, Dudley RWR, Dufresne D, Simard Tremblay E, Srour M, Myers KA
J Neurol 2024 May;271(5):2503-2508. Epub 2024 Jan 23 doi: 10.1007/s00415-023-12174-3. PMID: 38261030
Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG
Eur J Med Genet 2023 Jul;66(7):104773. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104773. PMID: 37120077
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W
Gene 2013 Oct 15;529(1):163-8. Epub 2013 Aug 8 doi: 10.1016/j.gene.2013.07.050. PMID: 23933417

Recent clinical studies


Ieremia E, Thway K
Arch Pathol Lab Med 2014 Oct;138(10):1406-11. doi: 10.5858/arpa.2013-0549-RS. PMID: 25268202


Ieremia E, Thway K
Arch Pathol Lab Med 2014 Oct;138(10):1406-11. doi: 10.5858/arpa.2013-0549-RS. PMID: 25268202

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