Kabuki Syndrome 1

Alternative Names

  • KABUK1
  • Kabuki Syndrome
  • Kabuki Make-Up Syndrome
  • KMS
  • Niikawa-Kuroki Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

147920

Mode of Inheritance

Autosomal dominant

Gene Map Locus

11q23.3,12q13.12

Description

Kabuki syndrome (KS) is a rare congenital syndrome characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.  Other symptoms 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.

About 55-80% of Kabuki syndrome cases are caused by mutations in the KMT2D gene.  This gene is located on chromosome 12q13.12.  It encodes an enzyme called lysine-specific methyltransferase 2D that is found in many body organs and tissues.

About 6% of the cases of Kabuki syndrome (Kabuki syndrome 2) are caused by mutation of the KDM6A gene.  This gene is located on chromosome Xp11.2 and encodes for an enzyme called lysine-specific demethylase 6A that is also found in many body organs and tissues.  Mutations in these genes lead to the absence of the functional enzymes and disrupt normal histone methylation and demethylation; that impair proper activation of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kabuki syndrome. Some Kabuki syndrome patients remain with no identified mutations in the KMT2D or KDM6A gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
147920.1Saudi ArabiaFemaleNo Skeletal dysplasia; Rib fusion; Clef...NM_001197104.1:c.3248G>AHeterozygousAutosomal, DominantMonies et al. 2017
147920.3United Arab EmiratesFemaleNoNo Global developmental delay; Abnormal hea...NM_003482.3:c.16294C>THeterozygousSaleh et al. 2021 de novo mutation
147920.4United Arab EmiratesFemaleNoYes Congenital hypothyroidism; Joint laxity;...NM_003482.3:c.11679delHeterozygousSaleh et al. 2021 de novo mutation
147920.5United Arab EmiratesMaleNoNo Global developmental delay; Abnormal fac...NM_003482.4:c.1622_1635delHeterozygousSaleh et al. 2021 de novo mutation
147920.6United Arab EmiratesMaleNoNo Diaphragmatic eventration; Global develo...NM_003482.3:c.10570C>THeterozygousSaleh et al. 2021 de novo mutation
147920.7United Arab EmiratesFemaleNoNo Global developmental delay; Attention de...NM_003482.3:c.12406C>THeterozygousSaleh et al. 2021 de novo mutation
147920.8Saudi ArabiaMaleNoNo Microphthalmia; Coloboma; Microcornea; M...NM_003482.4:c.8311C>THeterozygousPatel et al. 2018; Patel and Alkuraya. 2015 de novo mutation

Other Reports

Comoros

Santiago et al. (2010) reported the case of a 6-month-old girl with Kabuki syndrome.  She was admitted for acute diarrhea and growth retardation.

Egypt

Abdel-Salam et al. (2008) reported the first case of Kabuki syndrome from Egypt.  The 26-month old Egyptian girl showed a rare combination of anomalies.  This included an imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemia A, hyperlaxity of joints, and premature breast development.

Palestine

Gillis et al. (1990) described a 2-year old Arab boy with Kabuki syndrome.  The patient had 28 of the 32 originally described clinical features of the condition.  Additionally, he was also found to have hyperelastic joints, hypospadias, and scaphocephaly.

Saudi Arabia

Chaudhry et al. (2008) described a 5-year-old girl from Saudi Arabia with Kabuki syndrome. The authors stressed on the importance of ophthalmological examination in all patients with Kabuki syndrome for the early detection of ocular anomalies in order to prevent visual impairment.

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