The 7 symptoms of Kabuki Syndrome

Kabuki Syndrome is a rare genetic disorder characterized by a distinctive facial appearance, intellectual disability, and various other medical issues.

The seven symptoms of Kabuki Syndrome include:

1. Distinctive facial features such as long palpebral fissures (the space between the eyelids), arched eyebrows, and an everted lower lip.
2. Intellectual disability and developmental delays
3. Skeletal abnormalities such as scoliosis and joint hypermobility
4. Congenital heart defects
5. Hearing loss
6. Kidney abnormalities
7. Behavioral and emotional difficulties

The exact cause of Kabuki Syndrome is not known, but it is believed to be caused by mutations in specific genes. A diagnosis of Kabuki Syndrome is made based on the presence of specific clinical features and confirmed by genetic testing. If you suspect you or a loved one has Kabuki Syndrome, you should see a doctor for a proper diagnosis and treatment plan.