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Kabuki Syndrome 

Kabuki Syndrome
Chapter:
Kabuki Syndrome
Author(s):

Margaret P. Adam

and Louanne Hudgins

DOI:
10.1093/med/9780199934522.003.0153
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date: 07 March 2021

Kabuki syndrome (KS) is a multiple malformation/intellectual disability syndrome with the following features: distinctive facial features (long palpebral fissures, eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third sparse, depressed nasal tip with short columella, and prominent or cupped ears); congenital anomalies (congenital heart defects, renal anomalies); skeletal anomalies (persistent fetal fingertip pads; brachydactyly and/or clinodactyly; vertebral anomalies); postnatal growth retardation; endocrinologic abnormalities (premature thelarche); immune dysfunction; and mild to moderate intellectual disability. Heterozygous mutations or deletions in either MLL2 or KDM6A account for approximately 80% of cases. Here we review the clinical features, diagnosis, molecular genetics, genotype-phenotype correlations, and proposed pathogenesis for this condition.

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