Kabuki Syndrome
Published on Nov 19, 2015
A biology assignment given where my partner and i had to research any genetic disorder. We researched Kabuki Syndrome. Much of the information was said rather than being on the deck btw, so sorrriiieeeee.
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PRESENTATION OUTLINE
What is Kabuki Syndrome
- a.k.a KMS & Niikawa-Kuroki Syndrome
- Present at birth & an incurable genetic disorder
- Intellectual disability and skeletal abnormalities
- Distinctive facial features
- Majority caused by mutations to the KMT2D & KDM6A gene
Photo by Leo Reynolds
history
Everyone has 2 of those genes, kabuki syndrome occurs when one is faulty
1967 Dr. Norio Niikawa: infant unkown syndrome
1968 Dr. Yoshikazu Kuroki: infant unknown syndrome
1981 "Kabuki make-up" and Niikawa-Kuroki Syndrome
People with Kabuki Syndrome resembled Japanese Kabuki Theater
Now more commonly known as Kabuki Syndrome
1967 Dr. Norio Niikawa: infant unkown syndrome
1968 Dr. Yoshikazu Kuroki: infant unknown syndrome
1981 "Kabuki make-up" and Niikawa-Kuroki Syndrome
People with Kabuki Syndrome resembled Japanese Kabuki Theater
Now more commonly known as Kabuki Syndrome
Photo by bianca prime
In 1967 Dr. Norio Niikawa, and in 1968 Dr. YoshiKazu Kuroki, discovered individuals with symptoms non matching to already known disorders or diseases.
Up until 1981 there had been more observations on others with matching symptoms. Then, at the time, named "Kabuki Make-up Sytndrome", because of the resemblance in Japanese theatre make-up.
"The picture in the back is a traditional Japanese Kabuki theatre mask"
Photo by bianca prime
Who gets it and why
- Mostly caused by a fault in gene KMT2D
- An autosomal dominant disorder
- Mutation may come from one affected parent
- Some people don't have a mutated gene
- Exact reason why people get this syndrome is unknown
(Say this stuff in the quotes)
"Everyone has 2 of those genes(KMT2D), kabuki syndrome occurs when one is faulty"
"Mutations in genes cause characteristics of Kabuki Syndrome"
"according to MedlinePlus website, Autosomal dominant means you only need to get the abnormal gene from one parent in order to inherit the disease."
"Everyone has 2 of those genes(KMT2D), kabuki syndrome occurs when one is faulty"
"Mutations in genes cause characteristics of Kabuki Syndrome"
"according to MedlinePlus website, Autosomal dominant means you only need to get the abnormal gene from one parent in order to inherit the disease."
Photo by Jean-François Chénier
1 in 32,000 newborns get Kabuki Syndrome.
55 and 80% of cases of KMS cause gene mutation to genes that are important for development.
6%: developmental processes.
KMT2D & KDM6A gene mut.: abnormalities of development & function, and characteristics of Kabuki syndrome.
Some people have no identified KMT2D or KDM6A gene mutation. Their cause of disorder is unknown.
Photo by Jean-François Chénier
Symptoms & Health Issues
Photo by Robert S. Donovan
Distinctive facial features. Short stature. Skeletal abnormalities (scoliosis, short fingers, or lax joints). Intellectual disability ranging from mild to severe. Heart defects. Hearing loss. Kidney abnormalities. Dental problems (missing or misshapen teeth). Eye problems. Immune system dysfunction. Small skull. Undescended testicles. Ongoing middle ear infections. Epilepsy. Behaviour problems. Early puberty. Substantial weight gain at puberty.
Photo by Robert S. Donovan
Symptoms
Symptoms
Symptoms
Symptoms
Development and Therapies
Early Intervention Therapy/Developement. Physical Developement. Occupational Therapy. Speech Developement. Sensory Integration Development. Music Therapy. Behavior modification Therapy. Occupational therapy (for motor skills).
Photo by Connor Tarter
Treatment
Surgical Treatment. Epileptic Medication. Orthopaedic treatment. Restorative & cosmetic dental treatment. Regular eye exams & treatment. Sign language training. Social skills training. Special education assistance. Cosmetic surgery (i.e. pin back prominent ears)
Photo by Connor Tarter
Living With Kabuki
Able to manage day-to-day life and hold part-time jobs (still need supported care). Normal life span, but with life long medical problems. May suffer from obesity in youth or adulthood (weight management is important).
Photo by dtomaloff
Bibliography
"Autosomal Dominant: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 28 Mar. 2014.
"Kabuki Syndrome." Kabuki Syndrome | Disease | Cause | Office of Rare Diseases Research (ORDR-NCATS). National Institutes of Health, 1 Oct. 2010. Web. 30 Mar. 2014.
http://psyc.jmu.edu/school/documents/kabuki%20resource%20sheet.pdf
"Kabuki Syndrome." Genetics Home Reference. US National Library of Medicine, Oct. 2013. Web. 30 Mar. 2014.
Photo by Mr.Tea
