Kabuki, syndrome

[MIM 147 920300 867]

(Kabuki make-up syndrome, Niikawa-Kuroki syndrome)

Rare: incidence estimated at 1/35,000 births. The name comes from the similarity with the facial makeup of the actresses in the Japanese Kabuki Theater. Two genes have been identified so far:  mutation of the MLL2 or KMT2D gene (12q12-q14) in 50-75 % of patients (type 1) or KDM6A or  UTX gene (Xp11.2) in some cases (type 2).


Clinical presentation:

-        bilateral ptosis, long palpebral fissures, everted lateral portion of the inferior eyelid, arched eyebrows interrupted at the level of the middle third,

-        small mouth , long philtrum,  everted lower lip (bilobed aspect), high-arched palate (30 % cleft palate, complete or submucosal), microretrognathism

-        abnormal dentition (malocclusion), conical teeth

-        protruding or dysplastic ears, pre-auricular fistula,

-        small nose with short columella, hirsutism.


Anesthetic implications:

risk of difficult intubation (one reported case of bronchial stenosis). Echocardiography. Epilepsy. Hypotonia.


References : 

-         Casado AI, Ruiz J, Oro J, Martinez C; Fernandez I, Oliva P. 
Anaesthetic management in a case of Kabuki syndrome. 
Eur J Anaesthesiol 2004; 21: 162-3.

-         Debashis R, Tanmoy D, Ahsan A, Amitava R, Debashish M. 
Kabuki syndrome and its anaesthetic management. 
Indian J Anaesth 2011; 55: 431-3.

-         Leder D, Grisart B, Digilio MC, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. 
Deletion of KDM6A, a histone demethylase with MLL2 in three patients with Kabuki syndrome. 
Am J Hum Genet 2012; 90: 119-24. 

-        Arnaud M, Barat-Houari M, Gatinois V, Sanchez E et al. 
Le syndrome Kabuki : mise au point et revue de la littérature. 
Arch Fr Pédiatr 2015 ; 22 : 653-60. 

-        Kim J-H, Kang J, Oh JS, Ahn T, Kim B-K, Rong-Min Baek R-M.
Characteristics and surgical outcomes of cleft palate in Kabuki syndrome: a case series of 11 patients.
BMC Pediatrics 2021 ; 21:379 doi.org/10.1186/s12887-021-02852-4


Updated: June 2023