Kabuki syndrome
Disease Information
Overview
Kabuki syndrome is a rare congenital disorder, meaning that children are born with the condition. Children with Kabuki syndrome usually have distinctive facial features and mild to moderate mental impairment.
- Typical facial features include arched eyebrows, elongated and wide-set eyes, thick eyelashes, flat nasal tip and large or cupped ears
- Estimated to occur in 1 out of every 32,000 births
- Affects males and females equally
- Believed to be under-diagnosed because there is no diagnostic test and many doctors are unfamiliar with the disorder.
