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Kabuki syndrome 2(KABUK2)

MedGen UID:
477126
Concept ID:
C3275495
Disease or Syndrome
Synonyms: KABUK2; KDM6A-Related Kabuki Syndrome
 
KDM6A (Xp11.3)
 
Monarch Initiative: MONDO:0010465
OMIM®: 300867
Authors:

Additional descriptions

From OMIM
Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (147920).  http://www.omim.org/entry/300867
From MedlinePlus Genetics
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.

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).

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.

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

Clinical features

From HPO

Professional guidelines

PubMed

Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N
Sci Rep 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. PMID: 38282012Free PMC Article
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Hefner MA, Fassi E
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):407-416. Epub 2017 Oct 31 doi: 10.1002/ajmg.c.31589. PMID: 29088501

Recent clinical studies

Etiology

Belanger Deloge R, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA
Eur J Hum Genet 2023 Mar;31(3):296-303. Epub 2022 Dec 6 doi: 10.1038/s41431-022-01255-y. PMID: 36474027Free 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

Diagnosis

Belanger Deloge R, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA
Eur J Hum Genet 2023 Mar;31(3):296-303. Epub 2022 Dec 6 doi: 10.1038/s41431-022-01255-y. PMID: 36474027Free PMC Article
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

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