Kabuki syndrome

Also known as: Niikawa–Kuroki syndrome

Syndrome with congenital heart disease, distinctive facies, skeletal anomalies and developmental delay.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: KDM6A, KMT2D

Etiology & mechanism

Histone methylation defects.

Gene(s) involved (2)

KDM6AKMT2D

Symptoms & signs (9)

arched eyebrowsatrial septal defectcoarctation of the aortadevelopmental delayfeeding problemshypotonialong palpebral fissurespersistent fetal fingertip padsventricular septal defect

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.