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1375 pages added, reviewed or updated during the last month (last updated: 3/3/2021)


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Kabuki syndrome

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  • Kabuki syndrome is also known as Kabuki make-up syndrome, as sufferers mimic the facial makeup of actors in the Japanese Kabuki theatre
  • Kabuki syndrome is a congenital condition characterised by multiple anomalies and usually associated with mild to moderate learning disabilities
  • key features seen in Kabuki syndrome are its peculiar facies
    • a review has stated that Kabuki syndrome:
      • characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns
        • facial features most commonly identified in patients with Kabuki syndrome include long palpebral fissures, eversion of the lower eyelids, large ears, highly arched eyebrows, and a flat nasal tip
      • in 2003, approximately more than 350 cases had been reported from all over the world
        • besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized as other frequent features
        • a variety of visceral anomalies such as cardiovascular anomalies (42%), renal and/or urinary tract anomalies (28%), biliary atresia, diaphragmatic hernia, and anorectal anomaly were also reported
        • some patients were said to have normal intelligence (16%) and normal heights, suggesting that they may have reproductive fitness to have their children
        • have been 13 chromosomal abnormalities associated with Kabuki syndrome - however, no common abnormalities or breakpoints that possibly contribute to positional cloning of the putative Kabuki syndrome gene(s) are known
  • Kabuki syndrome may be accompanied by a weakened immune system and increased susceptibility to infection (2)
  • cleft palate is a feature that is sometimes observed in patients with Kabuki syndrome (3)

Kabuki Syndrome support group

Reference:

  1. Matsumoto N et al. Kabuki make-up syndrome: a review. American Journal of Medical Genetics 2003; 117C: 57?65
  2. Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: a review study of three hundred patients. Clinical Dysmorphology, 2002; 11: 95?102.
  3. Iida T et al. Cleft palate in Kabuki syndrome: a report of six cases. Cleft Palate Craniofac J. 2006 Nov;43(6):756-61

Last reviewed 01/2018