Kabuki syndrome

The syndrome Kabuki is a Backwardness congenital joining:

a face characteristic
a labial division
a Scoliosis
a shortening of the fifth Finger
And anomalies radiological seuses Os

The name of this Syndrome is in connection with the actors of the Kabuki, traditional theater Japanese.

Other names

Syndrome of Niikawa--Kuroki

Etiology

the change in question is not currently known

Incidence

With the Japan, where this syndrome for the first time was described, the Prévalence would be of 1 on 32 000.
Several cases are now described in various populations.

Description

To the birth, the child presents a standard weight but there exists a Microcéphalie. The children reached by this disease present more than nine times out of ten:

Retard of growth

This one settles after the Naissance by an insufficient staturo-ponderal growth.

particular Face

Large Ear S
Éversion side of the Eyelid lower
Eyebrow S arched with rare pilosities than the external third.
Dépression of the point of the Nez

Anomalies of the Squelette

Raccourcissement of fifth Doigt
Division of the Vertèbre S with the Radiographie

dermatoglyphic Anomalies

the dermatoglyphic anomalies is the same ones as in the Syndrome FG.

In a third of the cases, one finds a congenital Cardiopathie. The Coarctation of the aorta seems to be the most frequent anomaly.

Transmission

dominant autosomic Transmission

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 147920 * Website one Kabuki syndrome
Site of the Association of the Syndrome of Kabuki (A.S.K.), French association gathering the families of children reached of the syndrome Association of the Syndrome of Kabuki
Site of Association Heart of Metal, another French association on the syndrome which works in direct link with a.S.K. Association Heart of Metal

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