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:
“God damnit, why must all those journalists be such sticklers for detail? Why, they’d hold you to an accurate description of the first time you ever made love, expecting you to remember the color of the room and the shape of the windows.”
—Lyndon Baines Johnson (1908–1973)
“It [Egypt] has more wonders in it than any other country in the world and provides more works that defy description than any other place.”
—Herodotus (c. 484–424 B.C.)
“Whose are the truly labored sentences? From the weak and flimsy periods of the politician and literary man, we are glad to turn even to the description of work, the simple record of the month’s labor in the farmer’s almanac, to restore our tone and spirits.”
—Henry David Thoreau (1817–1862)