U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Rubinstein Taybi like syndrome

MedGen UID:
418972
•Concept ID:
C2931052
•
Disease or Syndrome
Synonym: Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses
 
Monarch Initiative: MONDO:0043195

Recent clinical studies

Etiology

Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes.
Bothra N, Agarwal P, Ali MJ
Semin Ophthalmol 2025 Feb;40(2):120-127. Epub 2024 May 22 doi: 10.1080/08820538.2024.2355310. PMID: 38775226
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.
Webster J, Wiley S, Schorry E, Bowers K, Collins Ruff K, Riddle I
J Genet Couns 2022 Feb;31(1):153-163. Epub 2021 Jul 3 doi: 10.1002/jgc4.1464. PMID: 34218493
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications.
Gamu D, Gibson WT
Cold Spring Harb Mol Case Stud 2020 Aug;6(4) Epub 2020 Aug 25 doi: 10.1101/mcs.a005058. PMID: 32843427Free PMC Article
The role of genetics in the establishment and maintenance of the epigenome.
Huidobro C, Fernandez AF, Fraga MF
Cell Mol Life Sci 2013 May;70(9):1543-73. Epub 2013 Mar 10 doi: 10.1007/s00018-013-1296-2. PMID: 23474979Free PMC Article
Transcription factors in disease.
Engelkamp D, van Heyningen V
Curr Opin Genet Dev 1996 Jun;6(3):334-42. doi: 10.1016/s0959-437x(96)80011-6. PMID: 8791518

Diagnosis

Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes.
Bothra N, Agarwal P, Ali MJ
Semin Ophthalmol 2025 Feb;40(2):120-127. Epub 2024 May 22 doi: 10.1080/08820538.2024.2355310. PMID: 38775226
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D
Genet Med 2024 Jan;26(1):101007. Epub 2023 Oct 17 doi: 10.1016/j.gim.2023.101007. PMID: 37860968
Medial fronto-facial capillary malformations.
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP
J Pediatr 2011 May;158(5):836-41. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.11.001. PMID: 21167498
Syndromes of disordered chromatin remodeling.
Ausió J, Levin DB, De Amorim GV, Bakker S, Macleod PM
Clin Genet 2003 Aug;64(2):83-95. doi: 10.1034/j.1399-0004.2003.00124.x. PMID: 12859401
Transcription factors in disease.
Engelkamp D, van Heyningen V
Curr Opin Genet Dev 1996 Jun;6(3):334-42. doi: 10.1016/s0959-437x(96)80011-6. PMID: 8791518

Therapy

Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice.
Shim JH, Greenblatt MB, Singh A, Brady N, Hu D, Drapp R, Ogawa W, Kasuga M, Noda T, Yang SH, Lee SK, Rebel VI, Glimcher LH
J Clin Invest 2012 Jan;122(1):91-106. Epub 2011 Dec 1 doi: 10.1172/JCI59466. PMID: 22133875Free PMC Article
Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study.
Hellings JA, Hossain S, Martin JK, Baratang RR
Am J Med Genet 2002 Mar 8;114(2):190-5. doi: 10.1002/ajmg.10156. PMID: 11857581

Prognosis

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, De Sanctis L, Kerkhof J, McConkey H, Rzasa J, Todd E, Balzo M, Cardaropoli S, Bruselles A, De Rubeis S, Buxbaum JD, Tartaglia M, Sadikovic B, Ferrero GB, Brusco A
Clin Genet 2025 Mar;107(3):354-358. Epub 2024 Nov 27 doi: 10.1111/cge.14654. PMID: 39603792Free PMC Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C
Hum Genet 2019 Mar;138(3):257-269. Epub 2019 Feb 26 doi: 10.1007/s00439-019-01985-y. PMID: 30806792Free PMC Article
Medial fronto-facial capillary malformations.
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP
J Pediatr 2011 May;158(5):836-41. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.11.001. PMID: 21167498

Clinical prediction guides

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, De Sanctis L, Kerkhof J, McConkey H, Rzasa J, Todd E, Balzo M, Cardaropoli S, Bruselles A, De Rubeis S, Buxbaum JD, Tartaglia M, Sadikovic B, Ferrero GB, Brusco A
Clin Genet 2025 Mar;107(3):354-358. Epub 2024 Nov 27 doi: 10.1111/cge.14654. PMID: 39603792Free PMC Article
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D
Genet Med 2024 Jan;26(1):101007. Epub 2023 Oct 17 doi: 10.1016/j.gim.2023.101007. PMID: 37860968
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.
Webster J, Wiley S, Schorry E, Bowers K, Collins Ruff K, Riddle I
J Genet Couns 2022 Feb;31(1):153-163. Epub 2021 Jul 3 doi: 10.1002/jgc4.1464. PMID: 34218493
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C
Hum Genet 2019 Mar;138(3):257-269. Epub 2019 Feb 26 doi: 10.1007/s00439-019-01985-y. PMID: 30806792Free PMC Article
Medial fronto-facial capillary malformations.
Sillard L, Léauté-Labreze C, Mazereeuw-Hautier J, Viseux V, Barbarot S, Vabres P, Bessis D, Martin L, Lorette G, Berthier F, Lacour JP
J Pediatr 2011 May;158(5):836-41. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.11.001. PMID: 21167498

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...