Kabuki Syndrome - Part 1

My oldest son, John, has a rare genetic disorder called Kabuki Syndrome.  Obviously, since it's rare, not many people have heard of it and I'm constantly being asked, "what exactly is Kabuki Syndrome?"  Well, it's actually a fairly complex syndrome, but in a nutshell, here it is:


Kabuki syndrome (KS) was named by the doctors that discovered it in Japan back in 1981.  They chose this name because of the facial resemblance to the makeup worn by the actors in the traditional Japanese Kabuki theater.  The facial characteristics they used to make this comparison are highly arched eyebrows, thick eyelashes, downturned lower eyelid, large/wide eyes, blue sclerae (the white part of the eye), flat nose and large/protruding ears. 

As I said, KS is rare, it only occurs in approximately 1 in 32,000 births (lucky us).  However, it may be underdiagnosed because up until recently it was only identified by the presence of certain physical, medical and cognitive characteristics, which could also look like other disorders.  In August of 2010 the gene responsible for 70% of KS cases was discovered.  This will make it easier for future cases of KS to be identified.

Almost all kids with KS have five main characteristics:
1.  unique facial features (described above)
2.  skeletal abnormalities
3.  dermatoglyphic differences
4.  mild to moderate intellectual disabilities
5.  short stature

Along with these characteristics many of these kids also deal with a myriad of medical issues which could include:
hypotonia (low muscle tone), cleft or highly arched palate, feeding issues, behavioral difficulties, recurrent infections, hearing loss, heart defects, kidney anomalies, hypodontia (problems with their teeth), seizures, immunological abnormalities and weight gain during puberty.

Most of these kids are followed by a team of doctors including:  genetics, cardiology, ENT, audiology, opthamology, orthopedics, dentist, urology, immunology, hematology, endocrinology, gastroenterology and neurology.  They also benefit from Physical therapy, occupational therapy, speech therapy, behavioral therapy and sensory intergratoin therapy. 

The baby years are difficult for these kids (as well as their parents) because the babies often have feeding issues and failure to thrive.  Because of their susceptibility to infection they often have numerous respiratory, ear, urinary tract and skin infections.   On top of that, these babies are usually poor sleepers.  

Childhood also offers a wide array of issues.  They usually have gross and fine motor delays which can affect school work.   KS kids almost always have expressive and receptive speech delays and they have difficulty with appropriate social skills.  They have a hard time staying on task and focusing.  They often have sensory issues and they tend to perseverate (this is an obsessive behavior which means they say or do or think or ask the same thing over and over and over again).  Honestly, KS kids act a lot like an autistic and ADD kid rolled into one!

What is adulthood like for a KS kid?  There's not a lot of research out there yet and it really depends on the severity of the medical and cognitive impairments.  Although some of the medical issues may become more problematic as an adult, KS kids seem to have an average lifespan. 

Ok, I know that all read a bit like a journal article...sorry.  I was trying to present this in an unbiased way and not let my emotions about my son cloud the way I presented the syndrome.  The most fascinating thing to me about this syndrome is that despite all these kids have going on in their little lives, they are some of the nicest, kindest most generous kids you will ever meet. 
Life with Kabuki Syndrome is a daily adventure for John and our family.  The challenges are numerous...but so are the rewards!

http://www.kabukisyndrome.com/