Edit concept Question Editor Create issue ticket

Kabuki Syndrome

Kabuki syndrome is a very rare genetic disorder that develops due to both sporadic and familial mutations of KMT2D and KDM6A genes. The clinical presentation is distinguished by unique facial features, impairment of growth and intellectual capacities, changes in the skeletal system, and dermatoglyphic abnormalities. The diagnosis is difficult to make in the absence of a thorough clinical assessment, meaning that a patient history coupled with a physical examination is crucial for raising suspicion. Genetic testing is used for confirmation.


Kabuki syndrome is a rare phenomenon in clinical practice, but several distinct features distinguish this syndrome from an array of disorders presenting with similar signs and symptoms [1] [2] [3] [4]:

In addition to these five crucial types of changes, other manifestations may stem from the cardiovascular system (mainly in the form of congenital heart disease such as coarctation of the aorta, atrial septal defects, and ventricular septal defects), gastrointestinal system (anal atresia), the eye (ptosis, strabismus), and the oral cavity (hypodontia and widely spaced teeth) [1] [2] [3] [4]. Furthermore, hearing loss, predisposition to infections and autoimmune diseases, and feeding issues are also noted [1] [2] [3] [4].

Failure to Thrive
  • Infants and young children often experience difficulties relating to hypotonia, feeding issues/failure to thrive, infections, surgical repair of heart and palate defects and developmental delays.[senteacher.org]
  • If the stature is normal at birth, neonates soon present with growth delay and frequent failure to thrive of variable severity. Microcephaly is inconstant.[orpha.net]
Poor Oral Hygiene
  • Dental examination revealed screwdriver-shaped incisors and a high arched maxilla, features typical of patients with KS, as well as very poor oral hygiene and early childhood caries.[ncbi.nlm.nih.gov]
Hypoplastic Nails
  • In addition, hypoplastic nails, café-au-lait patches, and missing upper lateral incisors were observed in 57.1%, 28.6%, and 14.3% of the patients, respectively.[ncbi.nlm.nih.gov]
Joint Dislocation
  • Furthermore, we show that MLL2 mutation-positive KS patients are more likely to have feeding problems, kidney anomalies, early breast bud development, joint dislocations and palatal malformations in comparison with MLL2 mutation-negative patients.[ncbi.nlm.nih.gov]
  • This strengthens muscle tone and lessens the chance of joint dislocations. Occupational therapy helps develop coordination and fine-motor skills. Speech therapy.[hcpro.com]
  • The hypermobility type of Ehlers-Danlos syndrome resembles KS in that patients with both conditions can have loose/lax joints, joint dislocations, and blue sclerae.[forgottendiseases.org]
Cognitive Deficit
  • This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or language impairment.[ncbi.nlm.nih.gov]


Because the diagnosis is primarily based on clinical criteria (but also because the disorder could be life-threatening in the absence of early recognition, particularly if congenital heart disease is present), a thorough clinical assessment is vital. The physician must take a detailed patient history during which the onset of symptoms and signs and their progression should be evaluated. Some studies have established the autosomal dominant pattern of inheritance in a significant number of patients meaning that a family history might provide important clues to the diagnosis [1] [2]. The majority of signs can be detected at the physical examination, but certain imaging studies may be necessary. As congenital heart diseases are often present [2], cardiac ultrasonography is a useful study. Once solid evidence is raised through clinical findings, genetic studies should be sought. Many patients develop Kabuki syndrome without a familial component (through de novo mutations) [1] [2]. The analysis of two genes - KMT2D (involved in the autosomal dominant form) and KDM6A (responsible for sporadic forms) will confirm the diagnosis [1] [2] [3] [4] [5] [6].

  • We diagnosed her as West syndrome because of hypsarrhythmia on electroencephalogram (EEG) and tonic spasms in cluster.[ncbi.nlm.nih.gov]
Immunoglobulin A Decreased
  • Large-scale prospective studies are warranted to determine if regular immunoglobulin supplementation decreases the frequency of otitis media and severity of hearing impairment. 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.[ncbi.nlm.nih.gov]


  • Throughout the course of rhGH treatment, the subjects' body proportions remained normal. CONCLUSIONS: All participants experienced catch-up growth during the year of rhGH treatment, but without an influence on body proportions. 2017 S.[ncbi.nlm.nih.gov]
  • We report 2 children (3 hips) with KS and hip dislocation who underwent surgical treatment with a minimum of 24-month follow-up. In addition, we review the current literature on the treatment of orthopaedic problems in KS.[ncbi.nlm.nih.gov]
  • There are no established guidelines for the treatment of GLILD in CVID. Immune globulin replacement therapy is the main treatment for CVID and higher doses of intravenous immunoglobulin (IVIG) may prevent the progression of chronic lung disease.[ncbi.nlm.nih.gov]
  • Management and treatment Management of KS patients focuses on manifestations; for example, treatment for feeding issues in infants may include gastrostomy tube placement.[orpha.net]
  • We conclude that kidney transplantation is a feasible and appropriate treatment option for renal impairment in children with this syndrome.[ncbi.nlm.nih.gov]


  • For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.[ncbi.nlm.nih.gov]
  • Patients with CVID and GLILD are at increased risk for malignancy and their prognosis is worse compared to patients with CVID without GLILD.[ncbi.nlm.nih.gov]
  • This report includes discussion of the aetiology of KS as well as discussion of the long-term prognosis for this particular patient, and patients with KS in general, with consideration of associated dental and medical issues.[ncbi.nlm.nih.gov]
  • Prognosis Although morbidity is significant, prognosis is quite favorable. Life expectancy is somewhat dependent on cardiac and immunologic complications. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • This report includes the oral manifestations of a Turkish patient with Kabuki syndrome with consideration of the long-term craniofacial prognosis for this patient based on the physical, clinical and radiological findings in 9 years follow-up period.[ncbi.nlm.nih.gov]


  • The second objective of the study was to explore possible etiological clues found in our data and from review of the literature.[ncbi.nlm.nih.gov]
  • Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.[ncbi.nlm.nih.gov]
  • This report describes the presence of self-injurious behavior in a child diagnosed with Kabuki syndrome who presented to a pediatric dentistry referral practice for evaluation of gingival bleeding, and provides a brief overview of the known etiology and[ncbi.nlm.nih.gov]
  • Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome of unknown etiology.[ncbi.nlm.nih.gov]
  • The Kabuki syndrome, or Niikawa-Kuroki syndrome, is a clinically recognizable syndrome of unknown etiology.[ncbi.nlm.nih.gov]


  • Author information 1 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 2 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 3 Department of Epidemiology[ncbi.nlm.nih.gov]
  • Summary Epidemiology KS was initially described in Japan, but has now been observed in all ethnic groups. Prevalence estimation is approximately 1:32,000. Clinical description KS has a wide and variable clinical spectrum.[orpha.net]
Sex distribution
Age distribution


  • Taken together, our studies suggest that the KS pathophysiology overlaps with the RASopathies and provide a potential direction for treatment design.[ncbi.nlm.nih.gov]
  • Conclusion: Association of cervical arterial disease with this syndrome has never been described, and its pathophysiology is not yet established; however, it can direct future research and maybe treatment.[surgicalneurologyint.com]


  • Kabuki syndrome (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent visual impairment.[ncbi.nlm.nih.gov]
  • Immune globulin replacement therapy is the main treatment for CVID and higher doses of intravenous immunoglobulin (IVIG) may prevent the progression of chronic lung disease.[ncbi.nlm.nih.gov]
  • The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of KS patients.[ncbi.nlm.nih.gov]
  • We provide further guidelines for preventive management.[ncbi.nlm.nih.gov]
  • Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs.[ncbi.nlm.nih.gov]



  1. Adam MP, Hudgins L, Hannibal M. Kabuki Syndrome. 2011 Sep 1 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Cheon C-K, Ko JM. Kabuki syndrome: clinical and molecular characteristics. Korean J Pediatr. 2015;58(9):317-324.
  3. Hannibal MC, Buckingham KJ, Ng SB, Ming JE, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011;155A:1511–1516.
  4. Kasdon BD, Fox JE. Kabuki syndrome: diagnostic and treatment considerations. Ment Health Fam Med. 2012;9(3):171-179.
  5. Makrythanasis P, van Bon BW, Steehouwer M, et al. MLL2 mutation detected in 86 patients with Kabuki syndrome; a genotype-phenotype study. Clin Genet. 2013;84:539–545.
  6. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42:790–793.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-06-28 12:22