What is Kabuki Syndrome?
Jan 03, 2025
Source: Cainiu Health
Dr. Lv Zhiqin
Introduction
In general, Kabuki syndrome is a rare congenital multiple developmental disorder. If related symptoms occur, timely medical consultation is recommended. Kabuki syndrome mostly follows an autosomal dominant inheritance pattern. In daily life, individuals with Kabuki syndrome are advised to receive standardized treatment and regular monitoring, which can help improve quality of life to some extent.
Generally, Kabuki syndrome is a rare congenital disorder characterized by multiple developmental abnormalities. If related symptoms appear, timely medical consultation is recommended. A detailed explanation is as follows:
Kabuki syndrome is mostly inherited as an autosomal dominant trait. It is primarily caused by genetic factors, maternal viral infections, or exposure to teratogenic drugs during pregnancy. This syndrome, involving multiple systems, is a rare group of congenital anomalies accompanied by developmental delays. The most notable characteristic of patients is a distinctive facial appearance resembling the makeup of Japanese Kabuki actors.
In addition, most patients exhibit varying degrees of intellectual disability. Their cognitive and learning abilities are significantly behind those of their peers. However, a few patients may have near-normal intelligence levels. Overall, though, they face numerous challenges in acquiring new knowledge and mastering new skills.
In daily life, it is recommended that Kabuki syndrome be managed with standardized treatment and regular monitoring, which can improve the patient's quality of life to some extent.
