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Kabuki Syndrome

^ http://purl.obolibrary.org/obo/NCIT_C124837


A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability. [ NCI ]

Synonyms: KMS, Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome, Kabuki Syndrome, Kabuki Make-up Syndrome

Term info

Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

A syndrome caused in the majority of cases by heterozygous mutation(s) in the KMT2D gene, encoding lysine-specific methyltransferase 2D, an enzyme involved in chromatin regulation; a minority of cases result from mutation(s) in the X-linked KDM6A gene, encoding lysine-specific demethylase 6A, an enzyme involved in regulation of histone methylation. The condition is characterized by distinctive facial features, including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose and large protruding earlobes, dermatoglyphic anomalies, hypotonia, short stature, developmental delay, and intellectual impairment. Some patients also manifest congenital hyperinsulinism, the molecular mechanism of which is unknown.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Kabuki Syndrome

Preferred Name

Kabuki Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0796004

code

C124837

Term relations