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 dermatoglyphic patterns. They often suffer from recurrent ear infections in infancy.
In terms of development, mild to moderate intellectual disability (92%) is a common feature. Also, children with Kabuki syndrome 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 difficulties such as struggling with fine motor, speech skills, and memory.
There is no indication that the life expectancy of individuals with Kabuki syndrome is shortened. Most medical issues are resolved with medical intervention. The fact that there are relatively few adults known with this syndrome is probably related to its recent discovery in 1980 in Japan and around 1990 in Europe and America.
Read more about this topic: Kabuki Syndrome
Famous quotes containing the word description:
“The next Augustan age will dawn on the other side of the Atlantic. There will, perhaps, be a Thucydides at Boston, a Xenophon at New York, and, in time, a Virgil at Mexico, and a Newton at Peru. At last, some curious traveller from Lima will visit England and give a description of the ruins of St. Paul’s, like the editions of Balbec and Palmyra.”
—Horace Walpole (1717–1797)
“The type of fig leaf which each culture employs to cover its social taboos offers a twofold description of its morality. It reveals that certain unacknowledged behavior exists and it suggests the form that such behavior takes.”
—Freda Adler (b. 1934)
“A sound mind in a sound body, is a short, but full description of a happy state in this World: he that has these two, has little more to wish for; and he that wants either of them, will be little the better for anything else.”
—John Locke (1632–1704)