Kabuki Syndrome

 

 

Patients have long palpebral fissures with eversion of the lateral portion of the lower eyelids, prominent eyelashes, arching of the eyebrows with sparse lateral third, ptosis, large protuberant ears, and open mouth with tented upper lip.  This syndrome derives its name from the resemblance of patients to the made-up actors in Japanese Kabuki theater.  Immune abnormalitis include hypogammaglobulinemia (low IgG and IgA) as well as impaired specific antibody response

Kabuki Syndrome