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Ring chromosome 7

MedGen UID:
419454
Concept ID:
C2931622
Cell or Molecular Dysfunction
Synonyms: Chromosome 7 ring syndrome; R(7) syndrome
 
Monarch Initiative: MONDO:0015441
Orphanet: ORPHA1449

Definition

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 7

Recent clinical studies

Etiology

Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS
Clin Genet 2002 Mar;61(3):202-6. doi: 10.1034/j.1399-0004.2002.610306.x. PMID: 12000362

Diagnosis

Roy SF, Bastian BC, Maguiness S, Giubellino A, Vemula SS, McCalmont TH, Yeh I
Pigment Cell Melanoma Res 2021 Sep;34(5):987-993. Epub 2021 Mar 17 doi: 10.1111/pcmr.12963. PMID: 33522711Free PMC Article
Jain H, Shetty D, Jain H, Sengar M, Khattry N, Subramanian PG
Cancer Genet 2018 Dec;228-229:17-20. Epub 2018 Jul 19 doi: 10.1016/j.cancergen.2018.06.003. PMID: 30553467
Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P
Am J Med Genet A 2014 Jul;164A(7):1765-9. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36503. PMID: 24677512
Kaur A, Dhillon S, Garg PD, Singh JR
J Intellect Dev Disabil 2008 Mar;33(1):87-94. doi: 10.1080/13668250701829829. PMID: 18300171
Vermeesch JR, Baten E, Fryns JP, Devriendt K
Clin Genet 2002 Nov;62(5):415-7. doi: 10.1034/j.1399-0004.2002.620511.x. PMID: 12431259

Therapy

Hamdi A, Afrough A, Muzzafar T, Popat UR, Hosing CM, Qazilbash MH, Lu G
Clin Lymphoma Myeloma Leuk 2014 Oct;14(5):e151-5. Epub 2014 Jun 10 doi: 10.1016/j.clml.2014.04.003. PMID: 25022600
Tamaska J, Adam E, Kozma A, Gopcsa L, Andrikovics H, Tordai A, Halm G, Bereczki L, Bagdi E, Krenacs L
Virchows Arch 2006 Oct;449(4):479-83. Epub 2006 Aug 29 doi: 10.1007/s00428-006-0267-5. PMID: 16941150

Prognosis

Jain H, Shetty D, Jain H, Sengar M, Khattry N, Subramanian PG
Cancer Genet 2018 Dec;228-229:17-20. Epub 2018 Jul 19 doi: 10.1016/j.cancergen.2018.06.003. PMID: 30553467
Tamaska J, Adam E, Kozma A, Gopcsa L, Andrikovics H, Tordai A, Halm G, Bereczki L, Bagdi E, Krenacs L
Virchows Arch 2006 Oct;449(4):479-83. Epub 2006 Aug 29 doi: 10.1007/s00428-006-0267-5. PMID: 16941150
Kobayashi K, Usami I, Kubota M, Nishio T, Kakazu N
Cancer Genet Cytogenet 2005 Apr 15;158(2):184-7. doi: 10.1016/j.cancergencyto.2004.08.036. PMID: 15796967

Clinical prediction guides

Kaur A, Dhillon S, Garg PD, Singh JR
J Intellect Dev Disabil 2008 Mar;33(1):87-94. doi: 10.1080/13668250701829829. PMID: 18300171
Bakotic BW, Poniecka AW, Dominguez CJ, Benigno A, Donahue RP, Cabello-Inchausti B
Cancer Genet Cytogenet 1999 Nov;115(1):19-22. doi: 10.1016/s0165-4608(99)00069-2. PMID: 10565294

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

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