October 23 is recognized each year as Kabuki Syndrome Awareness Day, a time to help spread awareness about this syndrome among the general public and in the medical field. Kabuki syndrome is a rare genetic disorder. To help do our part in spreading awareness, we’re sharing five different facts that we think you should know about Kabuki syndrome.
What is Kabuki Syndrome?
- A rare genetic disorder that is estimated to affect one in 32,000 births. Common symptoms include distinct facial features, mild to moderate intellectual disability, autistic behaviors, problems with hearing and vision, skeletal abnormalities, and communication delays.
What Resources Are Available for Families Impacted by the Disease?
- The organization All Things Kabuki works to help support patients and their loved ones while promoting research and awareness. Click here to learn more about this nonprofit. There are also other online support groups such as the Kabuki Syndrome Canada Facebook group. Finding other families and patients can help create a dialogue that can help everyone navigate their challenges.
Can People With Kabuki Syndrome Live Independently as Adults?
- All people with the illness are not affected in the same way. Some patients may experience an extent of disability that may restrict their ability to be independent. However, some patients with less severe symptoms can live more normal lives and are capable of holding jobs and participating in their communities.
Is Kabuki a Fatal Disorder?
- This disorder does not shorten the patient’s lifespan compared to an unaffected person. However, the presence of certain abnormalities or complications can endanger the patient’s life. Examples of complications include kidney dysfunction and hypoplastic left heart syndrome.
What’s the Latest in Kabuki Syndrome Research?
- The ketogenic diet has shown some promise in treating the developmental delays that are often seen in this disease. In addition, research with a mouse model of the syndrome has suggested that a very low-carb diet could improve mental function in patients. Click here to learn more about the latest research.
Check out our cornerstone on the illness here.