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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.
See: This record
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Cathy A Stevens   view full author information

Professional guidelines

PubMed

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
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
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
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
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
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

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
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
Dermatological findings in Rubinstein-Taybi Syndrome.
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
Rubinstein-Taybi syndrome in diverse populations.
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
Rubinstein-Taybi syndrome.
Baxter G, Beer J
Psychol Rep 1992 Apr;70(2):451-6. doi: 10.2466/pr0.1992.70.2.451. PMID: 1598367
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Diagnosis

KMT2A: Umbrella Gene for Multiple Diseases.
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
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J, Magdinier F, Fergelot P, Lacombe D
Genes (Basel) 2021 Jun 24;12(7) doi: 10.3390/genes12070968. PMID: 34202860Free PMC Article
Rubinstein-Taybi syndrome.
Ravella R, George P
Indian J Med Res 2020 Nov;152(Suppl 1):S236-S237. doi: 10.4103/ijmr.IJMR_2399_19. PMID: 35345227Free PMC Article
Main genetic entities associated with supernumerary teeth.
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
Rubinstein-Taybi Syndrome.
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

Rubinstein-Taybi Syndrome and Epigenetic Alterations.
Korzus E
Adv Exp Med Biol 2017;978:39-62. doi: 10.1007/978-3-319-53889-1_3. PMID: 28523540Free PMC Article
Ulerythema ophryogenes: updates and insights.
Morton CM, Bhate C, Janniger CK, Schwartz RA
Cutis 2014 Feb;93(2):83-7. PMID: 24605344
Epigenetic mechanisms of Rubinstein-Taybi syndrome.
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
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
Rubinstein-Taybi syndrome and psychiatric disorders.
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

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
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
Rubinstein-Taybi syndrome in diverse populations.
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
Benign and malignant tumors in Rubinstein-Taybi syndrome.
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
Rubinstein-Taybi syndrome (CREBBP, EP300).
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
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Clinical prediction guides

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
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
Rubinstein-Taybi syndrome (CREBBP, EP300).
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
Posterior helical pits.
Prescott TE, Hennekam RC
Eur J Med Genet 2007 Mar-Apr;50(2):159-61. Epub 2006 Nov 30 doi: 10.1016/j.ejmg.2006.11.003. PMID: 17223397
Coregulator-related diseases.
Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H
Intern Med 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. PMID: 15206547
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Recent systematic reviews

The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.
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
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
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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