Looking to learn more about Kabuki syndrome, its symptoms and diagnosis.

What do you want to know? My son ist 6 years old with Kabuki (de novo mutation). We are lokated in Germany, I'm a single mom and we have a puppy new with us right now, so forgive, if my answers may take some time ;)

Greetz, Katrin 

Kabuki syndrome is a rare genetic disorder and occurs in just 1 in 32,000 births. The condition affects males and females equally. It is characterized by specific facial features, including arched eyebrows and wide-set eyes. Health conditions associated with Kabuki syndrome may include short stature, immunological abnormalities, and elongated eyes, similar to those painted on the Japanese Kabuki theatre actors - hence the name. In medical terms, this eye form is called palpebral fissures with eversion of the lateral third of the lower eyelid. Up to half of the patients may present with congenital heart defects. Mid-moderate intellectual disability and developmental delay are also a feature of the syndrome. Learn more here, https://fdna.health/syndromes/kabuki-syndrome/