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The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, 

macrodontia and skeletalanomalies.
Herrmann J, Pallister PD, Tiddy W, Opitz JM.
Birth Defects Orig Artic Ser. 1975;11(5):7-18. No abstract available.
PMID: 1218237

Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred.

A variant of K.B.G. syndrome or a new mental retardation syndrome.
Parloir C, Fryns JP, Deroover J, Lebas E, Goffaux P, van den Berghe H.
Clin Genet. 1977 Nov;12(5):263-6.
PMID: 589847

[Dento-maxillo-facial anomalies in the KBG syndrome].
Tollaro I, v Bassarelli, Calzolari C, Franchini F, Giovannucci Uzielli ML, Vieri PL.
Minerva Stomatol. 1984 May-Jun;33(3):437-46. Italian. No abstract available.
PMID: 6589471

Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and

macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?
Fryns JP, Haspeslagh M.
Clin Genet. 1984 Jul;26(1):69-72.
PMID: 6467660

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G.
Am J Med Genet. 1994 Sep 1;52(3):302-7.
PMID: 7810561

The KBG syndrome: follow-up data on three affected brothers.
Soekarman D, Volcke P, Fryns JP.
Clin Genet. 1994 Oct;46(4):283-6.
PMID: 7834892

Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome.
Rivera-Vega MR, Leyva Juárez N, Cuevas-Covarrubias SA, Kofman-Alfaro SH.
Clin Genet. 1996 Oct;50(4):278-9. No abstract available.

Further delineation of the KBG syndrome.
Devriendt K, Holvoet M, Fryns JP.
Genet Couns. 1998;9(3):191-4.
PMID: 9777340

The KBG syndrome: an additional sporadic case.
Mathieu M, Helou M, Morin G, Dolhem P, Devauchelle B, Piussan C.
Genet Couns. 2000;11(1):33-5.

The KBG syndrome.
Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM.
Clin Dysmorphol. 2000 Apr;9(2):87-91. Review.

The KBG syndrome, characteristic dental findings: a case report.

Dowling PA, Fleming P, Gorlin RJ, King M, Nevin NC, McEntagart M.
Int J Paediatr Dent. 2001 Mar;11(2):131-4.

[KBG syndrome].
Iwasaki K.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):34-5. Review. Japanese. No abstract available.

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.
Tekin M, Kavaz A, Berberoğlu M, Fitoz S, Ekim M, Ocal G, Akar N.
Am J Med Genet A. 2004 Oct 15;130A(3):284-7. Review.

Clinical variability in KBG syndrome: report of three unrelated families.

Maegawa GH, Leite JC, Félix TM, da Silveira HL, da Silveira HE.
Am J Med Genet A. 2004 Dec 1;131(2):150-4.

KBG syndrome in a cohort of Italian patients.
Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B.
Am J Med Genet A. 2004 Dec 1;131(2):144-9.

Eight isolated cases of KBG syndrome: a new hypothesis of study.
Davanzo AM, Rosalia G, Biondi M, De Brasi D, Colucci AR, Panetta A, Zaccagnino P, Andreoli G, Roggini M.
Eur Rev Med Pharmacol Sci. 2005 Jan-Feb;9(1):49-52.

KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B.
Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
Skjei KL, Martin MM, Slavotinek AM.
Am J Med Genet A. 2007 Feb 1;143A(3):292-300. Review.
PMID: 17230487

The KBG syndrome: Case report.
Morghen I, Ferri E.
Cases J. 2008 Sep 26;1(1):186. doi: 10.1186/1757-1626-1-186.
PMID: 18822138

Aortic valve regurgitation in a patient affected by KBG syndrome.
Nicolini F, Beghi C, Gherli T.
J Heart Valve Dis. 2009 Jan;18(1):122-4.

Twins with KBG syndrome and autism.
Hah M, Lotspeich LJ, Phillips JM, Torres AD, Cleveland SC, Hallmayer JF.
J Autism Dev Disord. 2009 Dec;39(12):1744-6. doi: 10.1007/s10803-009-0811-7. Epub 2009 Jul 14. No abstract available.

KBG syndrome: review of the literature and findings of 5 affected patients.
Kumar H, Prabhu N, Cameron A.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Sep;108(3):e72-9. doi: 10.1016/j.tripleo.2009.04.035. Review.

KBG syndrome associated with periventricular nodular heterotopia.
Oegema R, Schot R, de Wit MC, Lequin MH, Oostenbrink R, de Coo IF, Mancini GM.
Clin Dysmorphol. 2010 Jul;19(3):164-5. doi: 10.1097/MCD.0b013e3283387b3b. No abstract available.
PMID: 20354438

KBG syndrome: clinical features and specific dental findings.
Almandey AH, Anthonappa RP, King NM, Fung CW.
Pediatr Dent. 2010 Sep-Oct;32(5):439-44.
PMID: 21070713

ANKRD11 gene deletion in a 17-year-old male
Erin L. Youngs, Jessica A. Hellings and Merlin G. Butler
Clinical Dysmorphology 2011, 20:170–171 Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, Kansas, USA
Correspondence to Erin L. Youngs, MS, Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center,
3901 Rainbow Blvd, MS 4015, Kansas City, Kansas 66160, USA
Tel: + 1 913 588 1871; fax: + 1 913 588 1305;
Received 29 October 2010 Accepted 21 March 2011

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M.
Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21.
PMID: 21782149

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
Sacharow S, Li D, Fan YS, Tekin M.
Am J Med Genet A. 2012 Mar;158A(3):547-52. doi: 10.1002/ajmg.a.34436. Epub 2012 Feb 3.
PMID: 22307766

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P.
Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26.
PMID: 23184435

A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.
Xu M, Zhou H, Yong J, Cong P, Li C, Yu Y, Qi M.
Eur J Med Genet. 2013 May;56(5):245-50. doi: 10.1016/j.ejmg.2013.01.007. Epub 2013 Jan 29.
PMID: 23369839

A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.
Miyatake S, Murakami A, Okamoto N, Sakamoto M, Miyake N, Saitsu H, Matsumoto N.
Am J Med Genet A. 2013 May;161A(5):1073-7. doi: 10.1002/ajmg.a.35661. Epub 2013 Mar 5.
PMID: 23463723

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J.
Am J Med Genet A. 2013 Apr;161A(4):835-40. doi: 10.1002/ajmg.a.35739. Epub 2013 Mar 12.
PMID: 23494856

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.
Spengler S, Oehl-Jaschkowitz B, Begemann M, Hennes P, Zerres K, Eggermann T.
Mol Syndromol. 2013 Jun;4(5):246-9. doi: 10.1159/000351765. Epub 2013 Jun 8.
PMID: 23885231

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features.
Ockeloen CW, Simpson J, Urquhart J, Davies J, Bowden M, Patrick K, Dore J, Clayton-Smith J.
Arch Dis Child. 2014 Jan;99(1):52-7. doi: 10.1136/archdischild-2013-304484. Epub 2013 Oct 21.
PMID: 24146286

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM.
Am J Med Genet A. 2014 Jul;164A(7):1744-9. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.
PMID: 24838796

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.
J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.
PMID: 25125236

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.
Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW.
Ann Lab Med. 2014 Sep;34(5):390-4. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21.
PMID: 25187894

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ.
Clin Genet. 2015 Feb 4. doi: 10.1111/cge.12564. [Epub ahead of print]
PMID: 25652421

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.
Kim HJ, Cho E, Park JB, Im WY, Kim HJ.
Eur J Med Genet. 2015 Feb;58(2):86-94. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M.
Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21.
PMID: 25413698

Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.
Samanta D, Willis E.
Acta Neurol Belg. 2015 Dec;115(4):779-82. doi: 10.1007/s13760-014-0413-9. Epub 2014 Dec 28. No abstract available.
PMID: 25543316

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.
Reynaert N, Ockeloen CW, Sävendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CE, Grigelioniene G, Nordgren A, Francois I, de Zegher F, Casteels K.
Horm Res Paediatr. 2015;83(5):361-4. doi: 10.1159/000380908. Epub 2015 Apr 1.
PMID: 25833229

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
Crippa M, Rusconi D, Castronovo C, Bestetti I, Russo S, Cereda A, Selicorni A, Larizza L, Finelli P.
Mol Cytogenet. 2015 Mar 26;8:20. doi: 10.1186/s13039-015-0126-7. eCollection 2015.

An unusual case of KBG syndrome with unique oral findings.
Hafiz A, Mufeed A, Ismael M, Alam M.
BMJ Case Rep. 2015 Jul 17;2015. pii: bcr2015210352. doi: 10.1136/bcr-2015-210352.
PMID: 26187867

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.
Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270.
PMID: 25424714

KBG syndrome involving a single nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Justine Coppinger, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131.PMCID: PMC5111005 DOI:10.1101/mcs.a001131

PMID: 27900361

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.
Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878.
PMID: 27605097

Clinical and genetic aspects of KBG syndrome
Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, 

Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M; DDD Study, Smithson S.

Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26.


Kbg syndrome and the establishment of its neuropsychological phenotype
J. Egger, L. Van Dongen, C. Stumpel, E. Wingbermuehle, T. Kleefstra
European Psychiatry , Volume 41 , S157 - S158

KBG syndrome: An Australian experience
Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, Patel C, Enriquez A, Goodwin L, Stark Z, Tan T, Wilson M, Roscioli T, Tekin M, Goel H.
Am J Med Genet A. 2017 Apr 27. doi: 10.1002/ajmg.a.38121

KBG syndrome: 16q24.3 microdeletion in an Indian patient
Srivastava, Priyanka; Gambhir, Poonam S.; Phadke, Shubha R.Clinical Dysmorphology: July 2017 - Volume 26 - Issue 3 - p 161–166
doi: 10.1097/MCD.0000000000000168​​

KBG Syndrome

Dayna Morel Swols, Joseph FosterII and Mustafa Tekin

Orphanet Journal of Rare Diseases 201712:183

KBG Syndrome
Morel Swols D, Tekin M. KBG Syndrome. 2018 Mar 22. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.Available from:

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