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)
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