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fs younger sister (not affected), right side, separated by a red slash (/).

To protect both personsf 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fs 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%

@ @

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@ @/@ E-mail Toshinobu Ozeki JAPAN