Kabuki SyndromeCreated By: Brittany H.

What is Kabuki Syndrome? It is a rare congenital disorder that is caused by a mutation in the DNA sequence that causes the cell to stop building protein. These mutations can be insertions, deletions, or duplications to the DNA sequence.

This can be hereditary or just a random change in DNA and the protein-making process.

What is Kabuki Syndrome? (Cont). Researchers (2010) have discovered that a gene called “MLL2” had significant changes in these individuals. This gene provides instructions to make protein.

Picture credit: GeneCards.org

What is in the name?In 1981, two Japanese science groups discovered and described this syndrome. They named it because of the facial resemblance to the make-up worn in Japanese Kabuki theatre.

(Elongated Eyes, Arched Eyebrows)

How is this diagnosed? Geneticists will look for at least 4 out of 5 of

the following characteristics:

•Facial Abnormalities•Skeletal Abnormalities•Intellectual Disabilities•Postnatal Short Stature•Dermatoglyphic Abnormalities

Credit to: KabukiSyndrome.org

Facial AbnormalitiesThick arched eyebrowsThick eyelashesLarge downward slanting eyesBlue Sclera of the eyeProtruding earsFlat NoseCup Shaped Ears

Credit : KabukiSyndrome.org

Musculoskeletal Abnormalitieshttp://www.youtube.com/watch?v=YOVx6DaPe5o

http://www.youtube.com/watch?v=Br4Zv-qWKwQ

Hypotonia & frequent dislocation of the hips and knees are common.

Both make it difficult for infants and toddlers with KS to do things such as sit up or learn to crawl.

Other common Musculoskeletal abnormalities…

Short fingersWebbing between fingersScoliosisCleft palate Joint laxity

Intellectual DisabilityMost individuals will have an either mild to moderate intellectual disability, with few in the severe range. There is a clear weakness in visual/ spatial skills.

Studies have followed individuals with Kabuki and discovered they can achieve practical living skills and hold part time jobs. However many will require sheltered living during adulthood.

Growth AbnormalitiesPostnatal short stature is seen right after birth and it is still unclear medically what causes this within this syndrome.

Growth delays continue throughout the lifetime of the individual with Kabuki, they will always be much shorter than their peers.

Credit to : KabukiSyndrome.com

Behavioral & Sensory Issues

Individuals often have a deficit in the ability to organize sensory information which often leads to behavior problems.

It is commonly found that they need constant oral stimulation (chewing non-foods) , experience panic towards certain noises, high anxiety, and have obsessive compulsive behaviors.

Mild depression is common in teens and adults with Kabuki Syndrome.

Credit: Kabukisyndrome.com

Feeding Behaviors“Eating is a completely sensory activity; smelling, touching and tasting foods are all sensory activities and can be overwhelming to a child who has a system that is unable to effectively process the input…Children demonstrate functional improvement in feeding only if it is comfortable, pleasant and internally motivating.” - Polly Tarbel, Kabuki Syndrome Network

Many of these children will need a supplemental feeding tube, sometimes surgically placed and long term. Do not push a child to orally eat if unable as it may result in a fear of food or the swallowing sensation!

Other Health Issues..Cardiovascular malformationsObesity Undiagnosed constipation issuesAbdominal herniasFrequent ear infectionsConductive hearing loss *very common!*Imperforate AnusMissing front incisorsCataracts

Intervention & Transition

Early intervention and the planning towards the transition into adulthood help the individual reach highest potential.

TherapiesTherapies that are often beneficial are:

1.Physical Therapy2.Occupational Therapy3.Speech Therapy4.Sensory Therapy5.Feeding Therapy6.Intensive Visual Therapy

Picture credit: babybuildersnorcal.com

Additional InformationThe statistics aren’t yet decided upon however many believe that between 1 and 10,000 and 1 in 32,000 have Kabuki Syndrome. (There is no prevalence in any race or gender.)

This is often misdiagnosed as Down Syndrome or even Prater Willi Syndrome. Children are often misdiagnosed until early to late childhood 4-9 years old.

However, pre-natal blood tests are now available in many countries that can help diagnose Kabuki earlier.

Insightful Journal Entries“Once in the NICU it was discovered that she had an arched palate/isolated cleft palate and a small heart failure. She also had special facial features – eyes, mouth, eyebrows and ears. Because of the cleft palate and because she was very limp it was very difficult to feed her. Kristine was not gaining enough weight and she had aches in her stomach after every meal. We had to feed her through the feeding tube every third hour day and night, and control her weight twice a week at the local child health center.”Credit to: Kabukisyndrome.com

Insightful Journal Entries

“She is integrated in our local kindergarten but she is followed by a special teacher 8 hours a week and is seen by a speech therapist and a physiotherapist regularly. She continues to thrive and she is making progresses in all areas of development. She has a mild intellectually disability and loves routines. She has very poor coordination and a poor sight. She has problems with constipation and dribbling from her mouth. “

KabukiSyndrome.com

Insightful Journal Entries (cont.)

“Even though I have Kabuki, I have goals and dreams just like everyone else. One of my biggest dreams is to sing on Broadway but I can’t really dance very well. Or I also would like to be an actress on the big screen in the movies. My fall back plan is to be a teacher or maybe do research science. Maybe I’ll get the chance to study Kabuki and help others just like me. “

KabukiSyndrome.com

Final Notes to EducatorsDo not push the child into physical sports or games and allow time to rest.

Do not use food as rewards in the classroom!

Do not force or taunt a child into eating orally.

Music related activities have been known to help situations in which the child is feeling over-stimulated.

Some great resources include:The Kabuki Syndrome Network @ KabukiSyndrome.com

Parent Emailing List@ KabukiSyndrome.com

Kabuki Parent Support Group@ Yahoo.com