Niikawa et al described the Kabuki Make-Up Syndrome noting the dysmorphic facial features relative to the appearance of a Kabuki player. While originally identified in Japan it can be seen around the world.
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Gene
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KMT2D
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KDM6A
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Chromosome
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12q13.12
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Xp11.3
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Protein
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histo-lysine-N-methyltransferases 2D
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lysine-specific demethylase 6A
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Inheritance: autosomal dominant
Clinical features include:
(1) dysmorphic facial features (see below)
(2) mental retardation
(3) postnatal growth retardation
(4) variable congenital heart defects
(5) variable genitourinary anomalies
(6) variable gastrointestinal anomalies
(7) variable skeletal anomalies
(8) persistent fetal fingertip pads
Dysmorphic facial features:
(1) elongated palpebral fissures
(2) eversion of the lateral third of the lower eyelid
(3) arched and broad eyebrows with sparse lateral one third
(4) ptosis
(5) blue sclerae
(6) short columella with depressed nasal tip
(7) broad nasal root
(8) variable cleft lip and/or palate
(9) dental anomalies
(10) micrognathia
(11) microcephaly
(12) large, protruding and/or cupped ears
