Unmasking Kabuki syndrome.

[kabuki syndrome]

The identification of de novo dominant mutations in KMT 2 D (MLL 2 ) as the main cause of Kabuki syndrome (KS ) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance , short stature , organ malformations and a varying degree of intellectual disability . Mutation screening studies have confirmed KMT 2 D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity . In this review , we aim to summarize the current clinical and molecular genetic knowledge on KS , provide genotype-phenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS .

Diseases
Validation

Diseases presenting "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated