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Kabuki syndrome 1(KABUK1)

MedGen UID:
893727
Concept ID:
CN030661
Disease or Syndrome
Synonyms: KABUK1; KMT2D-Related Kabuki Syndrome
 
Genes (locations): KDM6A (Xp11.3); KMT2D (12q13.12)
 
Monarch Initiative: MONDO:0007843
OMIM®: 147920

Disease characteristics

Excerpted from the GeneReview: Kabuki Syndrome
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss. [from GeneReviews]
Authors:
Margaret P Adam  |  Louanne Hudgins  |  Mark Hannibal   view full author information

Additional description

From MedlinePlus Genetics
Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth (pinky) fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth.

People with Kabuki syndrome may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).

Kabuki syndrome is a disorder that can affect many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.

A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.  https://medlineplus.gov/genetics/condition/kabuki-syndrome

Professional guidelines

PubMed

Schott DA, Gerver WJM, Stumpel CTRM
Horm Res Paediatr 2017;88(3-4):258-264. Epub 2017 Aug 9 doi: 10.1159/000479368. PMID: 28793284

Recent clinical studies

Etiology

Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D
Eur J Hum Genet 2022 Jun;30(6):682-686. Epub 2021 Nov 22 doi: 10.1038/s41431-021-00994-8. PMID: 34803161Free PMC Article
Schott DA, Gerver WJM, Stumpel CTRM
Horm Res Paediatr 2017;88(3-4):258-264. Epub 2017 Aug 9 doi: 10.1159/000479368. PMID: 28793284
Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):57-61. doi: 10.1001/archoto.2007.20. PMID: 18209138

Diagnosis

Montano C, Britton JF, Harris JR, Kerkhof J, Barnes BT, Lee JA, Sadikovic B, Sobreira N, Fahrner JA
Am J Med Genet A 2022 Jul;188(7):2217-2225. Epub 2022 Apr 6 doi: 10.1002/ajmg.a.62754. PMID: 35384273Free PMC Article
Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D
Eur J Hum Genet 2022 Jun;30(6):682-686. Epub 2021 Nov 22 doi: 10.1038/s41431-021-00994-8. PMID: 34803161Free PMC Article
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D
Am J Med Genet A 2020 Mar;182(3):446-453. Epub 2019 Dec 26 doi: 10.1002/ajmg.a.61462. PMID: 31876365
Carosso GA, Boukas L, Augustin JJ, Nguyen HN, Winer BL, Cannon GH, Robertson JD, Zhang L, Hansen KD, Goff LA, Bjornsson HT
JCI Insight 2019 Oct 17;4(20) doi: 10.1172/jci.insight.129375. PMID: 31465303Free PMC Article
Coi A, Santoro M, Pierini A, Marrucci S, Pieroni F, Bianchi F
Public Health Genomics 2017;20(4):229-234. Epub 2017 Sep 19 doi: 10.1159/000481358. PMID: 29045944

Therapy

Schott DA, Gerver WJM, Stumpel CTRM
Horm Res Paediatr 2017;88(3-4):258-264. Epub 2017 Aug 9 doi: 10.1159/000479368. PMID: 28793284

Prognosis

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D
Am J Med Genet A 2020 Mar;182(3):446-453. Epub 2019 Dec 26 doi: 10.1002/ajmg.a.61462. PMID: 31876365
Schott DA, Gerver WJM, Stumpel CTRM
Horm Res Paediatr 2017;88(3-4):258-264. Epub 2017 Aug 9 doi: 10.1159/000479368. PMID: 28793284
Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):57-61. doi: 10.1001/archoto.2007.20. PMID: 18209138

Clinical prediction guides

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D
Am J Med Genet A 2020 Mar;182(3):446-453. Epub 2019 Dec 26 doi: 10.1002/ajmg.a.61462. PMID: 31876365
Coi A, Santoro M, Pierini A, Marrucci S, Pieroni F, Bianchi F
Public Health Genomics 2017;20(4):229-234. Epub 2017 Sep 19 doi: 10.1159/000481358. PMID: 29045944
Schott DA, Gerver WJM, Stumpel CTRM
Horm Res Paediatr 2017;88(3-4):258-264. Epub 2017 Aug 9 doi: 10.1159/000479368. PMID: 28793284
Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):57-61. doi: 10.1001/archoto.2007.20. PMID: 18209138

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