Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition in which the child usually has distinctive facial features, mild to moderate mental impairment and growth problems.
Kabuki Syndrome is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation.
There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature.
Kabuki syndrome affects males and females in equal numbers.
The incidence of Kabuki syndrome is unknown, but has been estimated to be somewhere between 1 in 32,000-86,000 individuals in the general population.
Those with Kabuki syndrome can have a wide range of physical problems.
Individuals have different mixes of symptoms.
There is no cure, but early intervention can make some symptoms more manageable.
Those with Kabuki syndrome can live a normal life span and participate in a variety of activities.
Kabuki syndrome is diagnosed by looking for distinctive facial features and other characteristics.
Genetic testing can confirm diagnosis.
Early intervention can help children with Kabuki syndrome develop well and reach their full potential.
Kabuki syndrome is a rare genetic disorder with a range of characteristics, including intellectual disability, distinctive facial features and skeletal abnormalities.
There is no cure – treatment aims to reduce the risk of complications and improve quality of life.
Kabuki Syndrome is a life-long disability.
It is not a progressive disorder, however, new conditions may occur over time due to complications caused by Kabuki.
The ability to live an independent life will vary from person to person depending on their abilities and resources available.