U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ring chromosome 20 syndrome

MedGen UID:
489853
Concept ID:
C0265482
Congenital Abnormality
Synonyms: Chromosome 20 ring; Ring 20
SNOMED CT: Ring chromosome 20 syndrome (23686004)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0015436
Orphanet: ORPHA1444

Definition

Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect only one area of the brain, a region called the frontal lobe. In many cases, the seizures are complex and resistant to treatment with anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes.

Most people with ring chromosome 20 syndrome also have  intellectual disabilities and behavioral difficulties. Although these problems can appear either before or after the onset of epilepsy, they tend to worsen after seizures develop. Major birth defects and differences in facial features can occur in people with ring chromosome 20 syndrome, though these are rare. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 20 syndrome

Professional guidelines

PubMed

Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S
Epilepsy Behav 2015 Apr;45:155-63. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.002. PMID: 25843339

Recent clinical studies

Etiology

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP
Epilepsy Res 2016 Dec;128:83-93. Epub 2016 Oct 24 doi: 10.1016/j.eplepsyres.2016.10.004. PMID: 27816898
Hirano Y, Oguni H, Nagata S
Brain Dev 2016 Sep;38(8):746-9. Epub 2016 Mar 12 doi: 10.1016/j.braindev.2016.02.013. PMID: 26980640
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB
J Med Genet 2011 Jan;48(1):1-9. Epub 2010 Oct 23 doi: 10.1136/jmg.2010.080382. PMID: 20972251

Diagnosis

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP
Epilepsy Res 2016 Dec;128:83-93. Epub 2016 Oct 24 doi: 10.1016/j.eplepsyres.2016.10.004. PMID: 27816898
Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S
Epilepsy Behav 2015 Apr;45:155-63. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.002. PMID: 25843339
Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L
Epilepsy Behav 2012 Apr;23(4):409-14. Epub 2012 Mar 15 doi: 10.1016/j.yebeh.2012.02.008. PMID: 22424860
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB
Eur J Med Genet 2012 May;55(5):381-7. Epub 2012 Feb 22 doi: 10.1016/j.ejmg.2012.02.004. PMID: 22406087

Therapy

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Tayama T, Mori T, Goji A, Toda Y, Kagami S
Brain Dev 2020 Jun;42(6):473-476. Epub 2020 Apr 1 doi: 10.1016/j.braindev.2020.03.003. PMID: 32247529
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP
Epilepsy Res 2016 Dec;128:83-93. Epub 2016 Oct 24 doi: 10.1016/j.eplepsyres.2016.10.004. PMID: 27816898
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L
Epilepsy Behav 2012 Apr;23(4):409-14. Epub 2012 Mar 15 doi: 10.1016/j.yebeh.2012.02.008. PMID: 22424860

Prognosis

Gago-Veiga AB, Toledano R, García-Morales I, Pérez-Jiménez MA, Bernar J, Gil-Nagel A
Epilepsy Behav 2018 Mar;80:215-220. Epub 2018 Feb 3 doi: 10.1016/j.yebeh.2017.12.001. PMID: 29414555
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP
Epilepsy Res 2016 Dec;128:83-93. Epub 2016 Oct 24 doi: 10.1016/j.eplepsyres.2016.10.004. PMID: 27816898
Hirano Y, Oguni H, Nagata S
Brain Dev 2016 Sep;38(8):746-9. Epub 2016 Mar 12 doi: 10.1016/j.braindev.2016.02.013. PMID: 26980640
Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F
Epileptic Disord 2008 Dec;10(4):254-9. doi: 10.1684/epd.2008.0212. PMID: 19017565
Nishiwaki T, Hirano M, Kumazawa M, Ueno S
Acta Neurol Scand 2005 Mar;111(3):205-8. doi: 10.1111/j.1600-0404.2005.00298.x. PMID: 15691292

Clinical prediction guides

Gago-Veiga AB, Toledano R, García-Morales I, Pérez-Jiménez MA, Bernar J, Gil-Nagel A
Epilepsy Behav 2018 Mar;80:215-220. Epub 2018 Feb 3 doi: 10.1016/j.yebeh.2017.12.001. PMID: 29414555
Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S
Epilepsy Behav 2015 Apr;45:155-63. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.002. PMID: 25843339
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP
Funct Neurol 2013 Jan-Mar;28(1):47-53. PMID: 23731915Free PMC Article
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB
Eur J Med Genet 2012 May;55(5):381-7. Epub 2012 Feb 22 doi: 10.1016/j.ejmg.2012.02.004. PMID: 22406087

Recent systematic reviews

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...