U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ring chromosome 3

MedGen UID:
1643677
Concept ID:
C4707449
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

Definition

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

PubMed

Farkas G, Székely G, Goda V, Kállay KM, Kocsis ZS, Szakszon K, Benyó G, Erdélyi D, Liptai Z, Csordás K, Kertész G, Szegedi I, Kriván G, Takácsi-Nagy Z, Polgár C, Jurányi Z
Eur J Haematol 2023 Aug;111(2):254-262. Epub 2023 May 16 doi: 10.1111/ejh.13990. PMID: 37194391
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

Diagnosis

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

Prognosis

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

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...