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Rubinstein-Taybi syndrome(RSTS)

MedGen UID:
48517
Concept ID:
C0035934
Disease or Syndrome
Synonyms: Broad thumb-hallux syndrome; RSTS
SNOMED CT: Rubinstein-Taybi syndrome (45582004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Related genes: EP300, CREBBP
 
Monarch Initiative: MONDO:0019188
OMIM®: 180849
OMIM® Phenotypic series: PS180849
Orphanet: ORPHA783

Disease characteristics

Excerpted from the GeneReview: Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Characteristic craniofacial features include downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-related RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation. [from GeneReviews]
Authors:
Cathy A Stevens   view full author information

Professional guidelines

PubMed

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC
J Med Genet 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. PMID: 38471765Free PMC Article
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC
Am J Med Genet A 2016 Dec;170(12):3069-3082. Epub 2016 Sep 20 doi: 10.1002/ajmg.a.37940. PMID: 27648933
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S
Ital J Pediatr 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. PMID: 25599811Free PMC Article

Recent clinical studies

Etiology

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC
J Med Genet 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. PMID: 38471765Free PMC Article
Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J
Am J Med Genet A 2022 Sep;188(9):2536-2554. Epub 2022 Jun 21 doi: 10.1002/ajmg.a.62867. PMID: 35730128Free PMC Article
van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJ, Hennekam RC
Br J Dermatol 2014 Sep;171(3):615-21. Epub 2014 Aug 21 doi: 10.1111/bjd.13124. PMID: 25132000
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Diagnosis

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC
J Med Genet 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. PMID: 38471765Free PMC Article
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C
Genes (Basel) 2022 Mar 15;13(3) doi: 10.3390/genes13030514. PMID: 35328068Free PMC Article
Van Gils J, Magdinier F, Fergelot P, Lacombe D
Genes (Basel) 2021 Jun 24;12(7) doi: 10.3390/genes12070968. PMID: 34202860Free PMC Article
Cammarata-Scalisi F, Avendaño A, Callea M
Arch Argent Pediatr 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. PMID: 30457727
Hutchinson DT, Sullivan R
J Hand Surg Am 2015 Aug;40(8):1711-2. Epub 2015 Jul 1 doi: 10.1016/j.jhsa.2014.08.043. PMID: 26143027

Therapy

Sy C, Henry J, Kura B, Brenner A, Grandhi R
World Neurosurg 2018 Jan;109:342-346. Epub 2017 Oct 16 doi: 10.1016/j.wneu.2017.10.030. PMID: 29042334
Korzus E
Adv Exp Med Biol 2017;978:39-62. doi: 10.1007/978-3-319-53889-1_3. PMID: 28523540Free PMC Article
Morton CM, Bhate C, Janniger CK, Schwartz RA
Cutis 2014 Feb;93(2):83-7. PMID: 24605344
Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H
Neuromolecular Med 2014 Mar;16(1):16-24. Epub 2014 Jan 1 doi: 10.1007/s12017-013-8285-3. PMID: 24381114Free PMC Article
Levitas AS, Reid CS
J Intellect Disabil Res 1998 Aug;42 ( Pt 4):284-92. doi: 10.1046/j.1365-2788.1998.00136.x. PMID: 9786443

Prognosis

Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P
Am J Med Genet A 2020 Dec;182(12):2939-2950. Epub 2020 Sep 27 doi: 10.1002/ajmg.a.61888. PMID: 32985117
Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, Wesseling P, Hennekam RC, de Jong D
Am J Med Genet A 2018 Mar;176(3):597-608. Epub 2018 Jan 23 doi: 10.1002/ajmg.a.38603. PMID: 29359884Free PMC Article
Giacobbe A, Ajmone PF, Milani D, Avignone S, Triulzi F, Gervasini C, Menni F, Monti F, Biffi D, Canavesi K, Costantino MA
Brain Dev 2016 Jun;38(6):563-70. Epub 2016 Feb 8 doi: 10.1016/j.braindev.2015.12.003. PMID: 26867510
van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC
Eur J Hum Genet 2011 Jan;19(1):preceeding 118-20. Epub 2010 Jul 28 doi: 10.1038/ejhg.2010.124. PMID: 20664634Free PMC Article
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Clinical prediction guides

Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM
Mol Genet Genomic Med 2021 Oct;9(10):e1791. Epub 2021 Aug 24 doi: 10.1002/mgg3.1791. PMID: 34427995Free PMC Article
Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, Wesseling P, Hennekam RC, de Jong D
Am J Med Genet A 2018 Mar;176(3):597-608. Epub 2018 Jan 23 doi: 10.1002/ajmg.a.38603. PMID: 29359884Free PMC Article
Giacobbe A, Ajmone PF, Milani D, Avignone S, Triulzi F, Gervasini C, Menni F, Monti F, Biffi D, Canavesi K, Costantino MA
Brain Dev 2016 Jun;38(6):563-70. Epub 2016 Feb 8 doi: 10.1016/j.braindev.2015.12.003. PMID: 26867510
van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC
Eur J Hum Genet 2011 Jan;19(1):preceeding 118-20. Epub 2010 Jul 28 doi: 10.1038/ejhg.2010.124. PMID: 20664634Free PMC Article
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Recent systematic reviews

Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J
Am J Med Genet A 2022 Sep;188(9):2536-2554. Epub 2022 Jun 21 doi: 10.1002/ajmg.a.62867. PMID: 35730128Free PMC Article
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300

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