Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Kabuki Syndrome

System/ConcernEvaluationComment
Growth Measurement of height, weight, & head circumference
  • Consider plotting growth on KMT2D-related KS-specific growth charts. 1
  • Growth restriction & poor weight gain are common sequela of feeding difficulties.
Ophthalmologic Ophthalmology evalFor assessment of strabismus, refractive error, ptosis, & corneal abnormalities
Hearing Baseline audiology evalTo assess for conductive &/or sensorineural hearing loss
Mouth Directed evaluation of the palate for palatal anomaliesConsider referral to a craniofacial specialist if palatal anomalies are suspected.
Consider dental eval for those age >3 yrs.
Cardiac Echocardiogram w/visualization of the aortic archTo assess for congenital heart defects incl coarctation of the aorta
Consider EKG.If arrhythmia is suspected
Respiratory Consider chest radiographs to assess for diaphragmatic eventuation.In those w/respiratory issues, chronic cough, or recurrent pneumonia
Gastrointestinal/
Feeding 		Assess nutritional status, feeding, GERD.
  • Consider assessment by feeding team &/or VFSS for those w/suspected dysphagia.
  • Infants may have FTT; adolescents & adults may have obesity.
Genitourinary Baseline renal ultrasoundTo evaluate for renal anomalies & hydronephrosis
Physical exam for hypospadias &/or cryptorchidism in males
Musculoskeletal Consider radiographs of the spine in those w/scoliosis.To assess for vertebral anomalies
Endocrinologic Assess for hyperinsulinism. 2In neonates & infants w/persistent hypoglycemia
Assess for hypothyroidism & growth hormone deficiency. 3In those w/abnormal growth velocity
Immunologic T cell count, T cell subsets, & serum immunoglobulin levels at time of diagnosis or at age 1 yr (whichever is later)Refer to immunologist if:
  • Levels are abnormal; or
  • Person has history of recurrent infections.
Neurologic EEGIn those w/suspected seizures
Head MRITo evaluate for:
  • Structural brain malformation in those w/seizures
  • Chiari I malformation in those w/suggestive symptoms 4
Psychiatric/
Behavioral 		Neuropsychiatric evalScreen persons age >12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD.
Miscellaneous/
Other 		Developmental assessmentEvaluate motor, speech-language, general cognitive, & vocational skills.
Consultation w/clinical geneticist &/or genetic counselor

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; FTT = failure to thrive; GERD = gastroesophageal reflux disease; KS = Kabuki syndrome; VFSS = videofluoroscopic swallowing study

1.

KMT2D-related KS-specific growth charts have been published [Ruault et al 2020]. While these charts were developed using data from individuals with KMT2D-related KS, individuals with KDM6A-related KS or with KS and no identifiable pathogenic variant are more likely to follow the same growth pattern as children with KMT2D-related KS than a typical growth pattern. Plotting such individuals on the KMT2D-related KS-specific growth charts may give the provider a better idea of their true growth potential than plotting these individuals on a typical growth chart, which may accentuate or exaggerate their growth deficiency compared to others with KS.

2.

This may include collection of a "critical sample," such as obtaining plasma levels of insulin, free fatty acids, beta-hydroxybutyrate, and glycemic response to glucagon during a period of low plasma glucose [Yap et al 2019].

3.

Thyroid function tests may include free T4 and TSH levels. Assessment for growth hormone deficiency can be challenging and is best directed by an endocrinologist. Tests may include measurement of insulin-like growth factor 1 (IGF-1) and IGF binding protein 3, in addition to consideration of a growth hormone stimulation test using either arginine or clonidine [Schott et al 2016b].

4.

Symptoms may include headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, spasticity, or seizures.

From: Kabuki Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.