no55e

Kabuki Syndrome Network in Japan Newsletter　　Kabuki Journal　　　　No. 55

<< May 21, 2006 >>

External Characteristics Considered Typical of the Kabuki Syndrome

　The following photos and x-ray shots of Azusa (age: 9 years and 9 months) were all taken in May 2006. For easier identification of kabuki syndrome characteristics, some of below boxes include a picture of the patient’s younger sister (not affected), right side, separated by a red slash (/).

To protect both persons’ individual rights as well as for copyright reasons, any transferred use of these pictures is strictly prohibited.

The percentages provided with each symptom are linked to the Survey Results of the North American Kabuki Syndrome Network.

SKIN　

This picture contains reflections of light, but, in reality, Azusa’s hair is perfectly black.	Red spots on the back	Not continuing through to the vertebrae
General hirsutism (hairiness)	Moles	Dimple or sinus in tailbone/sacral area
23%	36%

CRANIOFACIAL 　

/	/	/
Prominent ears	Low set ears (top of ear not level w/ corner of eye)	Long Palpebral fissures (eye length)
87%	42%	81%
/	/	/
Arched eyebrows	Lateral thinning of eyebrows	Thick eyelashes
70%	47%	72%
/	/	/
Flat nasal bridge	Widely spaced teeth Missing teeth	Highly arched palate
64%	55% 　　　　62%	79%

LIMB/SKELETAL　


Increased range of joint motion (including fingers)	Decreased muscle tone	Scoliosis
68%	85%	19%
/
Short 5th finger	Flat footed
60%	45%

DERMATOLOGLYPHIC

/
Finger pads
77%

　/　 E-mail Toshinobu Ozeki JAPAN