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Kabuki Syndrome.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 Sep 1 [updated 2019 Feb 28].

Author information

1
Department of Pediatrics, University of Washington, Seattle, Washington
2
Division of Medical Genetics, Stanford University, Palo Alto, California
3
Division of Genetics, Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan

Excerpt

CLINICAL CHARACTERISTICS:

Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects; genitourinary anomalies; cleft lip and/or palate; gastrointestinal anomalies including anal atresia, ptosis, and strabismus; and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.

DIAGNOSIS/TESTING:

The diagnosis of KS is established in a proband of any age with a history of infantile hypotonia, developmental delay, and/or intellectual disability AND one or both of the following: Typical dysmorphic features (long palpebral fissures with eversion of the lateral third of the lower eyelid, and ≥2 of the following: arched and broad eyebrows with the lateral third displaying notching or sparseness; short columella with depressed nasal tip; large, prominent, or cupped ears; persistent fingertip pads). A heterozygous pathogenic variant in KMT2D or a heterozygous or hemizygous pathogenic variant in KDM6A.

MANAGEMENT:

Treatment of manifestations: Thickened feedings and positioning after meals to treat gastroesophageal reflux; gastrostomy tube placement if feeding difficulties are severe. If cognitive difficulties are evident, psychoeducational testing and special education services to address the individual child's needs. Evaluation by a developmental pediatrician or psychiatrist if behavior suggests autism spectrum disorders. Standard antiepileptic treatment for seizures. Prevention of secondary complications: Prophylactic antibiotic treatment prior to and during any procedure (e.g., dental work) may be indicated for those with specific heart defects. Surveillance: Monitor height, weight, and head circumference at each well-child visit and, at a minimum, yearly. Developmental milestones should be followed with each well-child visit. Monitor vision and hearing on a yearly basis.

GENETIC COUNSELING:

KMT2D-related KS is inherited in an autosomal dominant manner. Each child of an individual with KMT2D-related KS has a 50% chance of inheriting the pathogenic variant. The proportion of KS caused by de novo variants is unknown, but is likely high based on clinical experience. Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variant in an affected family member is known.

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