What is Kabuki Syndrome?

Generally speaking, Kabuki syndrome, also known as Kabuki make-up syndrome, is a rare congenital disorder characterized by multiple developmental abnormalities. If related symptoms appear, prompt medical attention is recommended. Detailed analysis is as follows:

Kabuki make-up syndrome is a group of rare syndromes involving multiple systems and congenital abnormalities combined with developmental delays. It is mainly caused by genetic factors, maternal viral infections, or exposure to teratogenic drugs. Patients typically exhibit distinctive facial features resembling the make-up used in Japanese Kabuki theater.

Additionally, patients may experience symptoms related to delayed growth and development, manifesting as physical development lagging behind peers, slower height and weight gain compared to normal children, and generally shorter stature. Intellectual development also shows varying degrees of impairment; most patients have mild to moderate intellectual developmental delays, which may affect their daily life, learning, and social interactions.

In daily life, it is recommended that individuals with Kabuki syndrome receive an early diagnosis, follow standardized treatment protocols, undergo regular monitoring, and actively prevent complications, which can appropriately improve their quality of life.