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    :
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)    . Furthermore, hearing loss, predisposition to infections and autoimmune diseases, and feeding issues are also noted    .
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  . 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 , 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)  . The analysis of two genes - KMT2D (involved in the autosomal dominant form) and KDM6A (responsible for sporadic forms) will confirm the diagnosis      .