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Image from GeneReviews
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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
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
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780
Dermatoglyphics and syndromes.
Preus M, Fraser FC
Am J Dis Child 1972 Dec;124(6):933-43. doi: 10.1001/archpedi.1972.02110180135022. PMID: 4265019

Diagnosis

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
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
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
Rubinstein-Taybi syndrome.
Hennekam RC
Eur J Hum Genet 2006 Sep;14(9):981-5. Epub 2006 Jul 26 doi: 10.1038/sj.ejhg.5201594. PMID: 16868563
Rubinstein-Taybi syndrome.
Berry AC
J Med Genet 1987 Sep;24(9):562-6. doi: 10.1136/jmg.24.9.562. PMID: 3312608Free PMC Article

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
Rubinstein-Taybi syndrome associated with humoral immunodeficiency.
Pasic S
J Investig Allergol Clin Immunol 2015;25(2):137-8. PMID: 25997309
Eosinophilic esophagitis and gastritis in Rubinstein-Taybi syndrome.
Noble A, Drouin E, Faure C
J Pediatr Gastroenterol Nutr 2007 Apr;44(4):498-500. doi: 10.1097/MPG.0b013e31802c41cd. PMID: 17414149
Targeting CREB-binding protein (CBP) loss of function as a therapeutic strategy in neurological disorders.
Rouaux C, Loeffler JP, Boutillier AL
Biochem Pharmacol 2004 Sep 15;68(6):1157-64. doi: 10.1016/j.bcp.2004.05.035. PMID: 15313413
Anesthetic problems in Rubinstein-Taybi syndrome.
Stirt JA
Anesth Analg 1981 Jul;60(7):534-6. PMID: 7195672

Prognosis

Rubinstein-Taybi syndrome associated with humoral immunodeficiency.
Pasic S
J Investig Allergol Clin Immunol 2015;25(2):137-8. PMID: 25997309
A case of Rubinstein-Taybi syndrome and congenital neuroblastoma.
de Kort E, Conneman N, Diderich K
Am J Med Genet A 2014 May;164A(5):1332-3. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36399. PMID: 24458435
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
Cardiac abnormalities in the Rubinstein-Taybi syndrome.
Stevens CA, Bhakta MG
Am J Med Genet 1995 Nov 20;59(3):346-8. doi: 10.1002/ajmg.1320590313. PMID: 8599359
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Clinical prediction guides

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Di Fede E, Ottaviano E, Grazioli P, Ceccarani C, Galeone A, Parodi C, Colombo EA, Bassanini G, Fazio G, Severgnini M, Milani D, Verduci E, Vaccari T, Massa V, Borghi E, Gervasini C
Int J Mol Sci 2021 Mar 31;22(7) doi: 10.3390/ijms22073621. PMID: 33807238Free PMC Article
Rubinstein-Taybi syndrome associated with humoral immunodeficiency.
Pasic S
J Investig Allergol Clin Immunol 2015;25(2):137-8. PMID: 25997309
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
Keloids and neoplasms in the Rubinstein-Taybi syndrome.
Siraganian PA, Rubinstein JH, Miller RW
Med Pediatr Oncol 1989;17(6):485-91. doi: 10.1002/mpo.2950170526. PMID: 2586363

Recent systematic reviews

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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