Kabuki syndrome is caused by abnormalities in which chromosome?

Generally, Kabuki syndrome is an autosomal dominant or X-linked dominant hereditary disease, which may result from abnormalities in autosomes or the X chromosome. If related symptoms appear, timely medical consultation is recommended. Detailed analysis is as follows:

Kabuki syndrome is mainly caused by genetic mutations in KMT2D and KDM6A. KMT2D is located on an autosome, and mutations in this gene affect chromatin modification, potentially interfering with embryonic development and resulting in corresponding symptoms. Meanwhile, KDM6A is located on the X chromosome. When mutations occur in KDM6A, the balance of gene expression regulation is disrupted, leading to the development of Kabuki syndrome.

Patients with Kabuki syndrome exhibit a series of distinctive facial features, such as wide eye spacing, a small nose, and ear malformations. Additionally, the skeletal system and intellectual development may also be affected, presenting symptoms such as thickened wrist bones and joint laxity, along with moderate intellectual developmental delay, which may impact daily life and learning.

In daily life, it is recommended that Kabuki syndrome be diagnosed as early as possible, treated according to clinical guidelines, regularly monitored, and that complications be actively prevented to appropriately improve quality of life.