Abstract
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients. Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown. Current KS diagnostic criteria include hypotonia during infancy, developmental delay and/or intellectual disability, typical dysmorphism and confirmed pathogenic/likely pathogenic variant in KMT2D or KDM6A. Care for KS patients includes the control of physical and psychomotor development during childhood, rehabilitation and multi-specialist care. This paper reviews the current clinical knowledge, provides molecular and scientific links and sheds light on the treatment of Kabuki syndrome individuals.
Highlights
Kabuki syndrome (KS) is characterized by distinct facial dysmorphism, growth retardation, psychomotor developmental delay and a wide spectrum of other manifestations affecting various body systems
The clinical diagnosis of KS often requires long-term monitoring because the phenotype changes over time—characteristic dysmorphism and other cardinal features tend to appear after several years of life
A probable diagnosis can be made in a patient with a history of infantile hypotonia, developmental delay and at least three of the supportive clinical features, and a possible diagnosis can be made in a patient with two of the supportive clinical features
Summary
Kabuki syndrome (KS) is characterized by distinct facial dysmorphism, growth retardation, psychomotor developmental delay and a wide spectrum of other manifestations affecting various body systems. KS was first described in the early 1980s in Japan It was named after the characteristic facial features which resemble the makeup of actors in the Kabuki theater in Tokyo. Facial dysmorphism presence may be enough to raise suspicion of KS, after which genetic diagnostics must be performed to confirm KS This is performed using Next-Generation Sequencing or Sanger Sequencing (more commonly in the past) [3]. A probable diagnosis can be made in a patient with a history of infantile hypotonia, developmental delay and at least three of the supportive clinical features, and a possible diagnosis can be made in a patient with two of the supportive clinical features These criteria may need to be expanded in the future; the authors argue that their use should already be implemented in order to make the KS diagnostic process universal [5]. We examine the effect of the KS molecular background on the clinical picture
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
