Kabuki syndrome: Difference between revisions

Revision as of 17:16, 1 January 2007

Revision as of 13:53, 29 January 2007

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== Description ==

There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects (30%), urinary tract anomalies, hearing loss (50%), hypotonia, and postnatal growth deficiency (83%). Other characteristics include skeletal abnormality, joint laxity, [[short stature]], and unusual [[Dermatoglyphics|dermatoglyphic]] patterns.<ref>{{cite journal |author=den Biggelaar A, Kuijpers-Jagtman A, Bergé S, Katsaros C |title=[Kabuki syndrome, a congenital syndrome with multiple anomalies] |journal=Ned Tijdschr Tandheelkd |volume=113 |issue=12 |pages=516-9 |year=2006 |id=PMID 17193989}}</ref> It is mostly [[sporadic]], although some [[familial]] cases have been reported.

In terms of development, mild to moderate [[intellectual disability]] (92%) is a common feature. Also, Kabuki Kids often have distinctive behavioural features. For example, 50% are described as unusually sociable, 30% as engaging in only minimal interaction with others, 74% as liking routine and 87% as having a happy disposition. A few have normal intelligence, most of whom have learning differences such as struggling with fine motor and speech skills and having a good memory.